F58L (p.Phe58Leu) variant of HFE (Q30201)
F58L (p.Phe58Leu) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- gnomAD rs1430881888
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.21
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available