P4S (p.Pro4Ser) variant of IRS1 (Insulin receptor substrate 1)
P4S (p.Pro4Ser) 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 0.41 / 1. The record also includes population frequency data.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1222939491
- ClinGen CA350858056
- ClinVar RCV004287565
- TOPMed rs1222939491
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.15
- CADD 26.20
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)