C282Y (p.Cys282Tyr) variant of HFE (Q30201)
C282Y (p.Cys282Tyr) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/pathogenic, low penetrance; risk fact in the context of TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Microvascular complications. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C282Y (p.Cys282Tyr) variant details
- p.Cys282Tyr
- rs1800562
- ClinGen CA113795
- cosmic curated COSV10736
- ClinVar RCV000000019
- Pathogenic/Pathogenic, low penetrance; risk fact
- TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Microvascular complications
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.87
- MetaLR 0.95
- MetaSVM 1.07
- CADD 25.80
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Pathogenic, low penetrance; risk fact (TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Microvascula)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. (PMID 10094552)
- Cited in: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. (PMID 10194428)