G27V (p.Gly27Val) variant of BCL2 (Apoptosis regulator Bcl-2)
G27V (p.Gly27Val) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 18-63318587-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- MetaLR 0.05
- MetaSVM -1.15
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available