L50F (p.Leu50Phe) variant of HFE (Q30201)
L50F (p.Leu50Phe) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- gnomAD rs1482080398
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available