S12T (p.Ser12Thr) variant of ABCC1 (P33527)
S12T (p.Ser12Thr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- gnomAD 16-15949785-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available