P53T (p.Pro53Thr) variant of IRS2 (Insulin receptor substrate 2)
P53T (p.Pro53Thr) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P53T (p.Pro53Thr) variant details
- p.Pro53Thr
- TOPMed rs1460016841
- gnomAD rs1460016841
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.07
- CADD 20.80
- PolyPhen-2 0.23
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)
- Structural context available