G52E (p.Gly52Glu) variant of LEPR (Leptin receptor)
G52E (p.Gly52Glu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- ExAC rs764219691
- TOPMed rs764219691
- gnomAD rs764219691
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available