S65C (p.Ser65Cys) variant of HFE (Q30201)
S65C (p.Ser65Cys) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- rs1800730
- ClinGen CA339778
- ClinVar RCV000000028
- ClinVar RCV000290779
- Likely pathogenic
- Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.55
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely pathogenic (Hemochromatosis type 1)
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. (PMID 10194428)
- Cited in: Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama… (PMID 10575540)