V68E (p.Val68Glu) variant of HFE (Q30201)
V68E (p.Val68Glu) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V68E (p.Val68Glu) variant details
- p.Val68Glu
- gnomAD 6-26090967-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.71
- CADD 16.60
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available