A34T (p.Ala34Thr) variant of IRS1 (Insulin receptor substrate 1)
A34T (p.Ala34Thr) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- ESP rs373040435
- ExAC rs373040435
- TOPMed rs373040435
- gnomAD rs373040435
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)