D2G (p.Asp2Gly) variant of BAX (Apoptosis regulator BAX)
D2G (p.Asp2Gly) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD 19-48954933-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.13
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available