C7Y (p.Cys7Tyr) variant of ABCC1 (P33527)
C7Y (p.Cys7Tyr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- gnomAD 16-15949771-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.36
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available