I45L (p.Ile45Leu) variant of LEP (Leptin)
I45L (p.Ile45Leu) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I45L (p.Ile45Leu) variant details
- p.Ile45Leu
- gnomAD 7-128252151-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.15
- CADD 9.06
- PolyPhen-2 0.04
- SIFT 0.77
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available