Y61C (p.Tyr61Cys) variant of HFE (Q30201)
Y61C (p.Tyr61Cys) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary hemochromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y61C (p.Tyr61Cys) variant details
- p.Tyr61Cys
- rs1684658845
- ClinGen CA363204700
- ClinVar RCV002012999
- Ensembl rs1684658845
- Uncertain significance
- Hereditary hemochromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- CADD 25.60
- PolyPhen-2 0.76
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary hemochromatosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)