G62W (p.Gly62Trp) variant of ABCC4 (O15439)
G62W (p.Gly62Trp) 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 0.47 / 1. The record also includes population frequency data.
G62W (p.Gly62Trp) variant details
- p.Gly62Trp
- TOPMed rs780497694
- gnomAD rs780497694
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)