G8V (p.Gly8Val) variant of IRS2 (Insulin receptor substrate 2)
G8V (p.Gly8Val) 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 0.19 / 1. The record also includes population frequency data and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- Ensembl rs2138939986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available