L50C (p.Leu50Cys) variant of HFE (Q30201)
L50C (p.Leu50Cys) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L50C (p.Leu50Cys) variant details
- p.Leu50Cys
- gnomAD 6-26090911-TTTGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available