A32G (p.Ala32Gly) variant of BCL2 (Apoptosis regulator Bcl-2)
A32G (p.Ala32Gly) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A32G (p.Ala32Gly) variant details
- p.Ala32Gly
- 1000Genomes rs546449806
- ExAC rs546449806
- TOPMed rs546449806
- gnomAD rs546449806
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.96
- CADD 18.00
- PolyPhen-2 0.28
- SIFT 0.24
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available