P12L (p.Pro12Leu) variant of IRS2 (Insulin receptor substrate 2)
P12L (p.Pro12Leu) in IRS2 (Insulin receptor substrate 2) 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 0.15 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1022312372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.11
- CADD 5.62
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available