F52S (p.Phe52Ser) variant of ABCC1 (P33527)
F52S (p.Phe52Ser) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F52S (p.Phe52Ser) variant details
- p.Phe52Ser
- gnomAD 16-16007916-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available