A18G (p.Ala18Gly) variant of HFE (Q30201)
A18G (p.Ala18Gly) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 6-26087492-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available