R4G (p.Arg4Gly) variant of ABCC1 (P33527)
R4G (p.Arg4Gly) in ABCC1 (P33527) is a protein-truncating 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.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 16-15949759-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available