C7F (p.Cys7Phe) variant of ABCC1 (P33527)
C7F (p.Cys7Phe) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- gnomAD 16-15949771-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available