G27S (p.Gly27Ser) variant of BCL2 (Apoptosis regulator Bcl-2)
G27S (p.Gly27Ser) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- ExAC rs779372254
- gnomAD rs779372254
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.41
- MetaLR 0.04
- MetaSVM -1.17
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available