R61G (p.Arg61Gly) variant of ABCG5 (Q9H222)
R61G (p.Arg61Gly) in ABCG5 (Q9H222) 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 0.11 / 1. The record also includes population frequency data and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- ExAC rs766545187
- TOPMed rs766545187
- gnomAD rs766545187
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 6.45
- PolyPhen-2 0.02
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available