C12Y (p.Cys12Tyr) variant of ATM (Serine-protein kinase ATM)
C12Y (p.Cys12Tyr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- rs1591445899
- ClinGen CA382519086
- cosmic curated COSV10437
- ClinVar RCV001020688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.94
- MetaLR 0.42
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- 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)