T66K (p.Thr66Lys) variant of LEPR (Leptin receptor)
T66K (p.Thr66Lys) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes published literature and structural context.
T66K (p.Thr66Lys) variant details
- p.Thr66Lys
- rs997252375
- ClinGen CA340672333
- ClinVar RCV003309966
- TOPMed rs997252375
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)