I185V (p.Ile185Val) variant of INSR (Insulin receptor)
I185V (p.Ile185Val) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I185V (p.Ile185Val) variant details
- p.Ile185Val
- cosmic curated COSV10459
- ExAC rs770317587
- TOPMed rs770317587
- gnomAD rs770317587
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.87
- CADD 8.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available