Q40R (p.Gln40Arg) variant of HFE (Q30201)
Q40R (p.Gln40Arg) in HFE (Q30201) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- rs752497474
- Ensembl rs752497474
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available