G52A (p.Gly52Ala) variant of LEPR (Leptin receptor)
G52A (p.Gly52Ala) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- ExAC rs764219691
- TOPMed rs764219691
- gnomAD rs764219691
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available