R50H (p.Arg50His) variant of ABCG5 (Q9H222)
R50H (p.Arg50His) 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 0.08 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs200036521
- ClinGen CA1636761
- ClinVar RCV004418097
- 1000Genomes rs200036521
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0791
- CADD 3.37
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in dbSNP:rs6756629)
- UniProt: Uncertain significance (in dbSNP:rs6756629)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available