D48G (p.Asp48Gly) variant of BAX (Apoptosis regulator BAX)
D48G (p.Asp48Gly) 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.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- gnomAD 19-48955743-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.01
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available