L50V (p.Leu50Val) variant of HFE (Q30201)
L50V (p.Leu50Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD 6-26090912-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.82
- CADD 3.93
- PolyPhen-2 0.45
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available