S12Y (p.Ser12Tyr) variant of ABCC1 (P33527)
S12Y (p.Ser12Tyr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD 16-15949786-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.13
- CADD 18.70
- PolyPhen-2 0.26
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available