R67G (p.Arg67Gly) variant of HFE (Q30201)
R67G (p.Arg67Gly) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- gnomAD 6-26090963-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- MetaLR 0.00
- MetaSVM -1.03
- CADD 23.10
- PolyPhen-2 0.81
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available