G36V (p.Gly36Val) variant of HFE (Q30201)
G36V (p.Gly36Val) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- TOPMed rs1364493082
- gnomAD rs1364493082
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available