S57W (p.Ser57Trp) variant of IRS1 (Insulin receptor substrate 1)
S57W (p.Ser57Trp) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
S57W (p.Ser57Trp) variant details
- p.Ser57Trp
- TOPMed rs1294206506
- gnomAD rs1294206506
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)