L20L (p.Leu20Leu) variant of HFE (Q30201)
L20L (p.Leu20Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 6-26087498-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 8.53
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available