F52L (p.Phe52Leu) variant of ABCC1 (P33527)
F52L (p.Phe52Leu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- gnomAD 16-16007921-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available