A48T (p.Ala48Thr) variant of ABCC1 (P33527)
A48T (p.Ala48Thr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- ExAC rs769771635
- TOPMed rs769771635
- gnomAD rs769771635
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available