R50L (p.Arg50Leu) variant of ABCG5 (Q9H222)
R50L (p.Arg50Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- rs200036521
- ClinGen CA1636762
- ClinVar RCV004517507
- 1000Genomes rs200036521
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 9.93
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in dbSNP:rs6756629)
- UniProt: Uncertain significance (in dbSNP:rs6756629)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available