F48S (p.Phe48Ser) variant of IRS2 (Insulin receptor substrate 2)
F48S (p.Phe48Ser) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- Ensembl rs2138939581
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.76
- CADD 26.80
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available