Y53D (p.Tyr53Asp) variant of ABCC1 (P33527)
Y53D (p.Tyr53Asp) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y53D (p.Tyr53Asp) variant details
- p.Tyr53Asp
- gnomAD rs1319994715
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.44
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.13
- Population evidence available
- Structural context available