F17S (p.Phe17Ser) variant of LEP (Leptin)
F17S (p.Phe17Ser) in LEP (Leptin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- gnomAD 7-128252064-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available