D53G (p.Asp53Gly) variant of BAX (Apoptosis regulator BAX)
D53G (p.Asp53Gly) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- gnomAD 19-48955758-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.87
- CADD 26.70
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available