T43A (p.Thr43Ala) variant of LEPR (Leptin receptor)
T43A (p.Thr43Ala) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEPR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs766062837
- TOPMed rs766062837
- gnomAD rs766062837
- Uncertain significance
- LEPR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (LEPR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available