R20L (p.Arg20Leu) variant of IRS1 (Insulin receptor substrate 1)
R20L (p.Arg20Leu) 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 0.66 / 1. The record also includes population frequency data.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- rs754992737
- ClinGen CA2143596
- ClinVar RCV004403312
- ExAC rs754992737
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.55
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)