P70Q (p.Pro70Gln) variant of IRS2 (Insulin receptor substrate 2)
P70Q (p.Pro70Gln) in IRS2 (Insulin receptor substrate 2) 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 0.51 / 1. The record also includes population frequency data and structural context.
P70Q (p.Pro70Gln) variant details
- p.Pro70Gln
- NCI-TCGA TCGA novel
- TOPMed rs1165891062
- gnomAD rs1165891062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available