S88C (p.Ser88Cys) variant of LEP (Leptin)
S88C (p.Ser88Cys) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S88C (p.Ser88Cys) variant details
- p.Ser88Cys
- TOPMed rs199838573
- gnomAD rs199838573
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- CADD 20.80
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available