R66K (p.Arg66Lys) variant of ABCG5 (Q9H222)
R66K (p.Arg66Lys) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
R66K (p.Arg66Lys) variant details
- p.Arg66Lys
- gnomAD rs1668383501
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available