H63D (p.His63Asp) variant of HFE (Q30201)
H63D (p.His63Asp) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting classifications of pathogenicity; ot in the context of Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Micr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H63D (p.His63Asp) variant details
- p.His63Asp
- rs1799945
- ClinGen CA113797
- cosmic curated COSV58513
- ClinVar RCV000000026
- Conflicting classifications of pathogenicity; ot
- Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Micr
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.32
- CADD 15.60
- PolyPhen-2 0.23
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity; ot (Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRA)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)