T48M (p.Thr48Met) variant of LEP (Leptin)
T48M (p.Thr48Met) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Obesity due to congenital leptin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- rs770247453
- ClinGen CA4469638
- NCI-TCGA Cosmic COSV1004
- ClinVar RCV001162248
- Uncertain significance
- Obesity due to congenital leptin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.083
- REVEL 0.08
- CADD 3.04
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Uncertain significance (Obesity due to congenital leptin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)