Y53C (p.Tyr53Cys) variant of ABCC1 (P33527)
Y53C (p.Tyr53Cys) 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.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs762631300
- ExAC rs762631300
- gnomAD rs762631300
- ClinGen CA7923411
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.56
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available