P8R (p.Pro8Arg) variant of BAX (Apoptosis regulator BAX)
P8R (p.Pro8Arg) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 19-48954951-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.07
- CADD 25.20
- PolyPhen-2 0.07
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available