V13L (p.Val13Leu) variant of IRS1 (Insulin receptor substrate 1)
V13L (p.Val13Leu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- ExAC rs758617015
- TOPMed rs758617015
- gnomAD rs758617015
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)