G52V (p.Gly52Val) variant of LEPR (Leptin receptor)
G52V (p.Gly52Val) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- ExAC rs764219691
- TOPMed rs764219691
- gnomAD rs764219691
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available