D48H (p.Asp48His) variant of BAX (Apoptosis regulator BAX)
D48H (p.Asp48His) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D48H (p.Asp48His) variant details
- p.Asp48His
- gnomAD 19-48955742-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.03
- MetaLR 0.13
- MetaSVM -0.88
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available