P8T (p.Pro8Thr) variant of BAX (Apoptosis regulator BAX)
P8T (p.Pro8Thr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 19-48954950-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available