R66H (p.Arg66His) variant of HFE (Q30201)
R66H (p.Arg66His) in HFE (Q30201) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in HFE1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- rs771912764
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58513
- ExAC rs771912764
- Variant assessed as somatic; moderate impact.
- in HFE1
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact. (in HFE1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available