L12L (p.Leu12Leu) variant of HFE (Q30201)
L12L (p.Leu12Leu) 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.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 6-26087474-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.40
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available