V39M (p.Val39Met) variant of ABCC1 (P33527)
V39M (p.Val39Met) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- 1000Genomes rs538744747
- ExAC rs538744747
- TOPMed rs538744747
- gnomAD rs538744747
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.14
- CADD 17.60
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available