R52K (p.Arg52Lys) variant of ABCG5 (Q9H222)
R52K (p.Arg52Lys) 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 0.53 / 1. The record also includes population frequency data and structural context.
R52K (p.Arg52Lys) variant details
- p.Arg52Lys
- rs758798787
- ClinGen CA346661622
- cosmic curated COSV10502
- ClinVar RCV004418116
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 20.00
- PolyPhen-2 0.01
- 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 1.8e-06)
- Structural context available