Y53S (p.Tyr53Ser) variant of ABCC1 (P33527)
Y53S (p.Tyr53Ser) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y53S (p.Tyr53Ser) variant details
- p.Tyr53Ser
- gnomAD 16-16007925-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.47
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available