Q83* (p.Gln83Ter) variant of LEP (Leptin)
Q83* (p.Gln83Ter) in LEP (Leptin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q83* (p.Gln83Ter) variant details
- p.Gln83Ter
- TOPMed rs1187329966
- gnomAD rs1187329966
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available