Q283P (p.Gln283Pro) variant of HFE (Q30201)
Q283P (p.Gln283Pro) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hemochromatosis type 1; Hereditary hemochromatosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q283P (p.Gln283Pro) variant details
- p.Gln283Pro
- rs111033563
- ClinGen CA280949
- ClinVar RCV000000036
- ClinVar RCV001050090
- Pathogenic/Likely pathogenic
- Hemochromatosis type 1; Hereditary hemochromatosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.25
- MetaLR 0.02
- MetaSVM -1.14
- CADD 17.10
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Hemochromatosis type 1; Hereditary hemochromatosis; not provided)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation… (PMID 12737937)
- Cited in: The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the… (PMID 15965644)