A4V (p.Ala4Val) variant of BCL2 (Apoptosis regulator Bcl-2)
A4V (p.Ala4Val) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. 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.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- cosmic curated COSV61375
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.07
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available