R66C (p.Arg66Cys) variant of HFE (Q30201)
R66C (p.Arg66Cys) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hemochromatosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs747739169
- ClinGen CA3666607
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58513
- Uncertain significance
- not specified; Hemochromatosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Hemochromatosis type 1; not provided)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of… (PMID 14633868)
- Cited in: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. (PMID 10094552)