R67C (p.Arg67Cys) variant of HFE (Q30201)
R67C (p.Arg67Cys) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary hemochromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs772818312
- ClinGen CA3666609
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58512
- Conflicting interpretations
- not specified; Hereditary hemochromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.20
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary hemochromatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)