D17V (p.Asp17Val) variant of ABCC1 (P33527)
D17V (p.Asp17Val) in ABCC1 (P33527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- rs769528847
- ClinGen CA7923391
- ClinVar RCV004213637
- ExAC rs769528847
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.71
- CADD 26.50
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available