Q21R (p.Gln21Arg) variant of HFE (Q30201)
Q21R (p.Gln21Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- gnomAD 6-26087502-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- MetaLR 0.41
- MetaSVM -0.51
- CADD 18.70
- PolyPhen-2 0.08
- SIFT 0.61
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available