I28V (p.Ile28Val) variant of LEPR (Leptin receptor)
I28V (p.Ile28Val) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.06 / 1. The record also includes population frequency data and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs369475236
- ClinGen CA894463
- ClinVar RCV003152086
- ClinVar RCV005927104
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0632
- REVEL 0.03
- CADD 7.18
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available