P65L (p.Pro65Leu) variant of IRS1 (Insulin receptor substrate 1)
P65L (p.Pro65Leu) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- ExAC rs764111957
- TOPMed rs764111957
- gnomAD rs764111957
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.58
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)