A75S (p.Ala75Ser) variant of ABCC4 (O15439)
A75S (p.Ala75Ser) in ABCC4 (O15439) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
A75S (p.Ala75Ser) variant details
- p.Ala75Ser
- TOPMed rs942624721
- gnomAD rs942624721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 4.87
- PolyPhen-2 0.01
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)