D2N (p.Asp2Asn) variant of BAX (Apoptosis regulator BAX)
D2N (p.Asp2Asn) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- gnomAD 19-48954932-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.10
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available