R9I (p.Arg9Ile) variant of BAX (Apoptosis regulator BAX)
R9I (p.Arg9Ile) in BAX (Apoptosis regulator BAX) 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.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- gnomAD 19-48954954-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.05
- CADD 33.00
- PolyPhen-2 0.04
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available