I31L (p.Ile31Leu) variant of BAX (Apoptosis regulator BAX)
I31L (p.Ile31Leu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- gnomAD 19-48955691-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.08
- CADD 24.40
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available