R52M (p.Arg52Met) variant of ABCG5 (Q9H222)
R52M (p.Arg52Met) in ABCG5 (Q9H222) 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 0.54 / 1. The record also includes population frequency data and structural context.
R52M (p.Arg52Met) variant details
- p.Arg52Met
- ExAC rs758798787
- TOPMed rs758798787
- gnomAD rs758798787
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 21.10
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available