T48R (p.Thr48Arg) variant of LEP (Leptin)
T48R (p.Thr48Arg) in LEP (Leptin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T48R (p.Thr48Arg) variant details
- p.Thr48Arg
- ExAC rs770247453
- TOPMed rs770247453
- gnomAD rs770247453
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0968
- REVEL 0.11
- CADD 0.75
- PolyPhen-2 0.08
- SIFT 0.79
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available