G43R (p.Gly43Arg) variant of HFE (Q30201)
G43R (p.Gly43Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- gnomAD 6-26090891-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.20
- MetaLR 0.01
- MetaSVM -0.92
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available