L6C (p.Leu6Cys) variant of LEP (Leptin)
L6C (p.Leu6Cys) in LEP (Leptin) is a protein-truncating 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.
L6C (p.Leu6Cys) variant details
- p.Leu6Cys
- gnomAD 7-128252031-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.98
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available