A38V (p.Ala38Val) variant of BCL2 (Apoptosis regulator Bcl-2)
A38V (p.Ala38Val) 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.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- Ensembl rs2144325571
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.97
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available