R4Q (p.Arg4Gln) variant of ABCC1 (P33527)
R4Q (p.Arg4Gln) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD 16-15949762-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available