R6T (p.Arg6Thr) variant of HFE (Q30201)
R6T (p.Arg6Thr) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HFE-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R6T (p.Arg6Thr) variant details
- p.Arg6Thr
- rs1762350545
- ClinGen CA363202630
- ClinVar RCV004544165
- Uncertain significance
- HFE-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.05
- SIFT 0.35
- ClinVar: Uncertain significance (HFE-related disorder)
- EBI: Variant of uncertain significance (in HFE1)
- UniProt: Uncertain significance (in HFE1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available