A32V (p.Ala32Val) variant of BCL2 (Apoptosis regulator Bcl-2)
A32V (p.Ala32Val) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- cosmic curated COSV61392
- 1000Genomes rs546449806
- ExAC rs546449806
- TOPMed rs546449806
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.97
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available