H47Y (p.His47Tyr) variant of LEP (Leptin)
H47Y (p.His47Tyr) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H47Y (p.His47Tyr) variant details
- p.His47Tyr
- gnomAD 7-128252157-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.58
- CADD 20.80
- PolyPhen-2 0.96
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available