L14L (p.Leu14Leu) variant of HFE (Q30201)
L14L (p.Leu14Leu) 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.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 6-26087482-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available