G22A (p.Gly22Ala) variant of HFE (Q30201)
G22A (p.Gly22Ala) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 6-26087505-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- MetaLR 0.28
- MetaSVM -0.65
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available