D13G (p.Asp13Gly) variant of ABCC1 (P33527)
D13G (p.Asp13Gly) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- gnomAD 16-15949789-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available