Q62R (p.Gln62Arg) variant of ABCG5 (Q9H222)
Q62R (p.Gln62Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q62R (p.Gln62Arg) variant details
- p.Gln62Arg
- rs1184914797
- ClinGen CA346661555
- ClinVar RCV003324225
- ClinVar RCV004985331
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available