P5S (p.Pro5Ser) variant of IRS1 (Insulin receptor substrate 1)
P5S (p.Pro5Ser) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs1939817418
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.05
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)