L20V (p.Leu20Val) variant of HFE (Q30201)
L20V (p.Leu20Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- ExAC rs768818817
- gnomAD rs768818817
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available