A32E (p.Ala32Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
A32E (p.Ala32Glu) 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, published literature, and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- gnomAD 18-63318572-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 16.80
- PolyPhen-2 0.09
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available