A79T (p.Ala79Thr) variant of BAK1 (Q16611)
A79T (p.Ala79Thr) in BAK1 (Q16611) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- rs762960717
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- ExAC rs762960717
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.12
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available