L46L (p.Leu46Leu) variant of HFE (Q30201)
L46L (p.Leu46Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- rs1205608152
- gnomAD 6-26090900-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.98
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available