C34W (p.Cys34Trp) variant of IRS2 (Insulin receptor substrate 2)
C34W (p.Cys34Trp) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C34W (p.Cys34Trp) variant details
- p.Cys34Trp
- Ensembl rs2138939684
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.56
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available