K45Q (p.Lys45Gln) variant of IRS2 (Insulin receptor substrate 2)
K45Q (p.Lys45Gln) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K45Q (p.Lys45Gln) variant details
- p.Lys45Gln
- gnomAD rs1292992712
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available