G62R (p.Gly62Arg) variant of ABCC4 (O15439)
G62R (p.Gly62Arg) in ABCC4 (O15439) 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 0.45 / 1. The record also includes population frequency data.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- TOPMed rs780497694
- gnomAD rs780497694
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)