A56V (p.Ala56Val) variant of BAK1 (Q16611)
A56V (p.Ala56Val) 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 0.16 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.03
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available