R51C (p.Arg51Cys) variant of IRS2 (Insulin receptor substrate 2)
R51C (p.Arg51Cys) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- gnomAD rs1345817777
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.53
- CADD 24.60
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available