G43V (p.Gly43Val) variant of HFE (Q30201)
G43V (p.Gly43Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD 6-26090892-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- MetaLR 0.01
- MetaSVM -1.01
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available