T43I (p.Thr43Ile) variant of LEPR (Leptin receptor)
T43I (p.Thr43Ile) in LEPR (Leptin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- gnomAD rs1241672391
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- CADD 20.60
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available