P12Q (p.Pro12Gln) variant of IRS2 (Insulin receptor substrate 2)
P12Q (p.Pro12Gln) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- gnomAD rs1022312372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.08
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available