P4L (p.Pro4Leu) variant of IRS2 (Insulin receptor substrate 2)
P4L (p.Pro4Leu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- TOPMed rs1255092832
- gnomAD rs1255092832
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.4e-05)
- Structural context available