G2A (p.Gly2Ala) variant of HFE (Q30201)
G2A (p.Gly2Ala) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD 6-26087445-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- MetaLR 0.30
- MetaSVM -0.56
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.45
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available