S58C (p.Ser58Cys) variant of ABCC1 (P33527)
S58C (p.Ser58Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S58C (p.Ser58Cys) variant details
- p.Ser58Cys
- gnomAD 16-16007940-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available