R54W (p.Arg54Trp) variant of IRS1 (Insulin receptor substrate 1)
R54W (p.Arg54Trp) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs753900721
- NCI-TCGA Cosmic COSV5933
- ExAC rs753900721
- TOPMed rs753900721
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.60
- CADD 27.40
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)