R50C (p.Arg50Cys) variant of ABCG5 (Q9H222)
R50C (p.Arg50Cys) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Sitosterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs6756629
- ClinGen CA1636763
- cosmic curated COSV53211
- ClinVar RCV000272378
- Benign/Likely benign
- not provided; Sitosterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 23.60
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided; Sitosterolemia; Cardiovascular phenotype)
- EBI: Benign (in dbSNP:rs6756629)
- UniProt: Benign (in dbSNP:rs6756629)
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)