P12R (p.Pro12Arg) variant of IRS2 (Insulin receptor substrate 2)
P12R (p.Pro12Arg) in IRS2 (Insulin receptor substrate 2) 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 0.12 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs1022312372
- ClinGen CA388663947
- ClinVar RCV004090941
- gnomAD rs1022312372
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.06
- CADD 7.26
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.025)
- Structural context available