I16F (p.Ile16Phe) variant of LEPR (Leptin receptor)
I16F (p.Ile16Phe) 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.
I16F (p.Ile16Phe) variant details
- p.Ile16Phe
- gnomAD 1-65570477-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available