P4Q (p.Pro4Gln) variant of IRS2 (Insulin receptor substrate 2)
P4Q (p.Pro4Gln) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- TOPMed rs1255092832
- gnomAD rs1255092832
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available