G36D (p.Gly36Asp) variant of HFE (Q30201)
G36D (p.Gly36Asp) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs1364493082
- ClinGen CA363204053
- ClinVar RCV001246359
- TOPMed rs1364493082
- Uncertain significance
- Hereditary hemochromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary hemochromatosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)