S11L (p.Ser11Leu) variant of IRS1 (Insulin receptor substrate 1)
S11L (p.Ser11Leu) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- rs747368142
- NCI-TCGA Cosmic COSV5933
- ExAC rs747368142
- TOPMed rs747368142
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.21
- CADD 24.70
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)