L44L (p.Leu44Leu) variant of HFE (Q30201)
L44L (p.Leu44Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- rs754679371
- gnomAD 6-26090896-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 9.42
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available