L57V (p.Leu57Val) variant of ABCC1 (P33527)
L57V (p.Leu57Val) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- ESP rs199949505
- ExAC rs199949505
- TOPMed rs199949505
- gnomAD rs199949505
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available