C43Y (p.Cys43Tyr) variant of ABCC1 (P33527)
C43Y (p.Cys43Tyr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C43Y (p.Cys43Tyr) variant details
- p.Cys43Tyr
- gnomAD 16-16007895-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.61
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available