F70V (p.Phe70Val) variant of IRS1 (Insulin receptor substrate 1)
F70V (p.Phe70Val) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
F70V (p.Phe70Val) variant details
- p.Phe70Val
- TOPMed rs1939805502
- gnomAD rs1939805502
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.58
- CADD 28.50
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)