S12C (p.Ser12Cys) variant of ABCC1 (P33527)
S12C (p.Ser12Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- gnomAD 16-15949786-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available