Y18S (p.Tyr18Ser) variant of IRS1 (Insulin receptor substrate 1)
Y18S (p.Tyr18Ser) in IRS1 (Insulin receptor substrate 1) 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 0.76 / 1. The record also includes population frequency data.
Y18S (p.Tyr18Ser) variant details
- p.Tyr18Ser
- Ensembl rs1559160372
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)