Q55* (p.Gln55Ter) variant of LEP (Leptin)
Q55* (p.Gln55Ter) in LEP (Leptin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- gnomAD 7-128254422-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available