A9D (p.Ala9Asp) variant of ABCC1 (P33527)
A9D (p.Ala9Asp) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 16-15949777-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available