P68A (p.Pro68Ala) variant of LEP (Leptin)
P68A (p.Pro68Ala) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- gnomAD 7-128254461-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.39
- CADD 2.82
- PolyPhen-2 0.45
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available