E102D (p.Glu102Asp) variant of IRS1 (Insulin receptor substrate 1)
E102D (p.Glu102Asp) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
E102D (p.Glu102Asp) variant details
- p.Glu102Asp
- rs139921079
- ClinGen CA2143553
- ClinVar RCV004403307
- 1000Genomes rs139921079
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.64
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)