K79T (p.Lys79Thr) variant of IRS1 (Insulin receptor substrate 1)
K79T (p.Lys79Thr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
K79T (p.Lys79Thr) variant details
- p.Lys79Thr
- TOPMed rs1288365568
- gnomAD rs1288365568
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.78
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)