Y45F (p.Tyr45Phe) variant of ABCC1 (P33527)
Y45F (p.Tyr45Phe) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- gnomAD 16-16007901-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- CADD 20.60
- PolyPhen-2 0.07
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available