L10L (p.Leu10Leu) variant of HFE (Q30201)
L10L (p.Leu10Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- rs368895240
- gnomAD 6-26087470-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.68
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available