F70C (p.Phe70Cys) variant of IRS1 (Insulin receptor substrate 1)
F70C (p.Phe70Cys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
F70C (p.Phe70Cys) variant details
- p.Phe70Cys
- TOPMed rs1373053992
- gnomAD rs1373053992
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)