S88C (p.Ser88Cys) variant of HFE (Q30201)
S88C (p.Ser88Cys) 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 0.40 / 1. The record also includes published literature and structural context.
S88C (p.Ser88Cys) variant details
- p.Ser88Cys
- rs2113750654
- ClinGen CA363205988
- ClinVar RCV001823010
- Ensembl rs2113750654
- Likely pathogenic
- Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.49
- MetaLR 0.01
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Hemochromatosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)