C7R (p.Cys7Arg) variant of ABCC1 (P33527)
C7R (p.Cys7Arg) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- gnomAD 16-15949770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.38
- CADD 24.40
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available