G2R (p.Gly2Arg) variant of HFE (Q30201)
G2R (p.Gly2Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 6-26087444-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.03
- MetaLR 0.31
- MetaSVM -0.69
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available