A18V (p.Ala18Val) variant of BAK1 (Q16611)
A18V (p.Ala18Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.07
- CADD 6.97
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available