A22V (p.Ala22Val) variant of BCL2L11 (Bcl-2-like protein 11)
A22V (p.Ala22Val) in BCL2L11 (Bcl-2-like protein 11) 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 0.22 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1429573443
- cosmic curated COSV10880
- gnomAD rs1429573443
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -0.90
- CADD 19.10
- PolyPhen-2 0.10
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available