I69T (p.Ile69Thr) variant of LEP (Leptin)
I69T (p.Ile69Thr) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- TOPMed rs1417571919
- gnomAD rs1417571919
- Uncertain significance
- LEP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.13
- CADD 0.54
- PolyPhen-2 0.09
- SIFT 0.40
- ClinVar: Uncertain significance (LEP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available