A35E (p.Ala35Glu) variant of BAX (Apoptosis regulator BAX)
A35E (p.Ala35Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A35E (p.Ala35Glu) variant details
- p.Ala35Glu
- gnomAD 19-48955704-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.96
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available