A38E (p.Ala38Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
A38E (p.Ala38Glu) 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.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- gnomAD 18-63318554-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -1.00
- CADD 8.50
- PolyPhen-2 0.32
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available