L50L (p.Leu50Leu) variant of HFE (Q30201)
L50L (p.Leu50Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs1482080398
- gnomAD 6-26090914-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 8.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available