V51A (p.Val51Ala) variant of LEP (Leptin)
V51A (p.Val51Ala) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V51A (p.Val51Ala) variant details
- p.Val51Ala
- gnomAD 7-128254411-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.50
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available