R6S (p.Arg6Ser) variant of HFE (Q30201)
R6S (p.Arg6Ser) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemochromatosis type 1; Variegate porphyria; Microvascular complications of diab. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs149342416
- ClinGen CA338954
- ClinVar RCV000199898
- ClinVar RCV000329080
- Uncertain significance
- Hemochromatosis type 1; Variegate porphyria; Microvascular complications of diab
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.22
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (Hemochromatosis type 1; Variegate porphyria; Microvascular compl)
- EBI: Variant of uncertain significance (in HFE1)
- UniProt: Uncertain significance (in HFE1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver… (PMID 12584229)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)