T40I (p.Thr40Ile) variant of LEP (Leptin)
T40I (p.Thr40Ile) in LEP (Leptin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD rs1342830248
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.23
- CADD 17.20
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available