L9L (p.Leu9Leu) variant of HFE (Q30201)
L9L (p.Leu9Leu) 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.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- rs763602445
- gnomAD 6-26087467-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.22
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available