D10H (p.Asp10His) variant of ABCC1 (P33527)
D10H (p.Asp10His) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D10H (p.Asp10His) variant details
- p.Asp10His
- gnomAD 16-15949779-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.08
- CADD 25.30
- PolyPhen-2 0.47
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available