C11Y (p.Cys11Tyr) variant of ATM (Serine-protein kinase ATM)
C11Y (p.Cys11Tyr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- rs1364898025
- ClinGen CA382519080
- ClinVar RCV004523592
- TOPMed rs1364898025
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.77
- MetaLR 0.38
- MetaSVM -0.27
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)