D104G (p.Asp104Gly) variant of IRS1 (Insulin receptor substrate 1)
D104G (p.Asp104Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D104G (p.Asp104Gly) variant details
- p.Asp104Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.68
- CADD 31.00
- PolyPhen-2 0.61
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)