G22R (p.Gly22Arg) variant of HFE (Q30201)
G22R (p.Gly22Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- ExAC rs773545645
- gnomAD rs773545645
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available