P65H (p.Pro65His) variant of IRS1 (Insulin receptor substrate 1)
P65H (p.Pro65His) 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 0.68 / 1. The record also includes population frequency data.
P65H (p.Pro65His) variant details
- p.Pro65His
- rs764111957
- ClinGen CA2143572
- ClinVar RCV004221428
- ExAC rs764111957
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.58
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)