I45N (p.Ile45Asn) variant of LEP (Leptin)
I45N (p.Ile45Asn) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I45N (p.Ile45Asn) variant details
- p.Ile45Asn
- ExAC rs781301976
- gnomAD rs781301976
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.57
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available