L57L (p.Leu57Leu) variant of HFE (Q30201)
L57L (p.Leu57Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs1398948148
- gnomAD 6-26090935-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 6.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available