D13Y (p.Asp13Tyr) variant of ABCC1 (P33527)
D13Y (p.Asp13Tyr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- gnomAD 16-15949788-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.31
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available