A129T (p.Ala129Thr) variant of IRS1 (Insulin receptor substrate 1)
A129T (p.Ala129Thr) 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 0.13 / 1. The record also includes population frequency data.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- gnomAD rs1939795940
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- CADD 9.12
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)