R105W (p.Arg105Trp) variant of LEP (Leptin)
R105W (p.Arg105Trp) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to congenital leptin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R105W (p.Arg105Trp) variant details
- p.Arg105Trp
- rs104894023
- ClinGen CA123668
- NCI-TCGA Cosmic COSV5824
- Pathogenic
- Obesity due to congenital leptin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.69
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Obesity due to congenital leptin deficiency)
- EBI: Pathogenic (in LEPD)
- UniProt: Pathogenic (in LEPD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in… (PMID 15070752)
- Cited in: A leptin missense mutation associated with hypogonadism and morbid obesity. (PMID 9500540)