S12F (p.Ser12Phe) variant of ABCC1 (P33527)
S12F (p.Ser12Phe) 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.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- gnomAD 16-15949786-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.10
- CADD 21.30
- PolyPhen-2 0.26
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available