S58P (p.Ser58Pro) variant of LEPR (Leptin receptor)
S58P (p.Ser58Pro) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S58P (p.Ser58Pro) variant details
- p.Ser58Pro
- ESP rs150657671
- TOPMed rs150657671
- gnomAD rs150657671
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available