G10R (p.Gly10Arg) variant of ABCG8 (Q9H221)
G10R (p.Gly10Arg) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs1171068014
- ClinGen CA346662474
- ClinVar RCV002438053
- TOPMed rs1171068014
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.17
- CADD 8.89
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available