R23H (p.Arg23His) variant of HFE (Q30201)
R23H (p.Arg23His) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary hemochromatosis; Hemochromatosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- rs148161858
- ClinGen CA3666572
- ClinVar RCV000296289
- ClinVar RCV001095119
- Conflicting interpretations
- Hereditary hemochromatosis; Hemochromatosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary hemochromatosis; Hemochromatosis type 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)