G11D (p.Gly11Asp) variant of ABCC1 (P33527)
G11D (p.Gly11Asp) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 16-15949783-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.19
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available