V39L (p.Val39Leu) variant of ABCC1 (P33527)
V39L (p.Val39Leu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- 1000Genomes rs538744747
- ExAC rs538744747
- TOPMed rs538744747
- gnomAD rs538744747
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.11
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available