R330M (p.Arg330Met) variant of HFE (Q30201)
R330M (p.Arg330Met) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R330M (p.Arg330Met) variant details
- p.Arg330Met
- rs111033558
- ClinGen CA280947
- ClinVar RCV000000035
- UniProt VAR 008114
- Pathogenic
- Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.34
- MetaLR 0.81
- MetaSVM 0.14
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.61
- ClinVar: Pathogenic (Hemochromatosis type 1)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Structural context available
- Cited in: Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. (PMID 10401000)
- Cited in: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. (PMID 10094552)