L25I (p.Leu25Ile) variant of BAX (Apoptosis regulator BAX)
L25I (p.Leu25Ile) 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.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- gnomAD 19-48955586-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.08
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available