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What's Newv2025.1

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rs7412

Reference allele: CAlternative allele (effect allele): T

Global Annotation Cell/Tissue Annotation Genome Browser

Variant Summary Basic Information Category Clinvar Overall AF Ancestry Specific AF Gender AF Male Gender AF Female Integrative Score Protein Function Conservation Epigenetics Transcription Factors Chromatin States Local Nucleotide Diversity Mutation Density & Rate Mappability Proximity Table SpliceAI Somatic Mutation GWAS Catalog

aPC-Protein Function:: 37.167155
PolyPhenCat:: probably damaging
PolyPhenVal:: 1
PolyPhen2 HDIV:: 1
PolyPhen2 HVAR:: 1
Grantham:: 180
Mutation Taster:: 0.93
Mutation Assessor:: 2.28
SIFTcat:: deleterious
SIFTval:: 0
Protein Variant:: R176C
AM Pathogenicity:: 0.4222
AM Class:: ambiguous