V39A (p.Val39Ala) variant of LEP (Leptin)
V39A (p.Val39Ala) 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.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD 7-128252134-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available