L25F (p.Leu25Phe) variant of BAX (Apoptosis regulator BAX)
L25F (p.Leu25Phe) 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.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- gnomAD 19-48955586-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available