I45M (p.Ile45Met) variant of LEP (Leptin)
I45M (p.Ile45Met) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I45M (p.Ile45Met) variant details
- p.Ile45Met
- gnomAD 7-128252153-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.36
- CADD 13.30
- PolyPhen-2 0.86
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available