R4G (p.Arg4Gly) variant of HFE (Q30201)
R4G (p.Arg4Gly) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- ExAC rs772521418
- gnomAD rs772521418
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available