T78S (p.Thr78Ser) variant of LEP (Leptin)
T78S (p.Thr78Ser) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- gnomAD 7-128254491-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.52
- CADD 22.30
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available