I19K (p.Ile19Lys) variant of LEPR (Leptin receptor)
I19K (p.Ile19Lys) in LEPR (Leptin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I19K (p.Ile19Lys) variant details
- p.Ile19Lys
- gnomAD 1-65570487-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available