K36R (p.Lys36Arg) variant of LEP (Leptin)
K36R (p.Lys36Arg) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- ESP rs111650508
- ExAC rs111650508
- TOPMed rs111650508
- gnomAD rs111650508
- Uncertain significance
- LEP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.53
- CADD 21.50
- PolyPhen-2 0.76
- SIFT 0.32
- ClinVar: Uncertain significance (LEP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available