S52F (p.Ser52Phe) variant of LEP (Leptin)
S52F (p.Ser52Phe) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- ExAC rs776443424
- TOPMed rs776443424
- gnomAD rs776443424
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available