R612H (p.Arg612His) variant of LEPR (Leptin receptor)
R612H (p.Arg612His) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; LEPR-related disorder; Obesity due to leptin receptor gene deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R612H (p.Arg612His) variant details
- p.Arg612His
- rs144159890
- ClinGen CA894878
- cosmic curated COSV10967
- ClinVar RCV000778251
- Pathogenic/Likely pathogenic
- not provided; LEPR-related disorder; Obesity due to leptin receptor gene deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.56
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (not provided; LEPR-related disorder; Obesity due to leptin recep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)