C7W (p.Cys7Trp) variant of ABCC1 (P33527)
C7W (p.Cys7Trp) 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.
C7W (p.Cys7Trp) variant details
- p.Cys7Trp
- gnomAD 16-15949772-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.40
- CADD 26.30
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available