C12* (p.Cys12Ter) variant of ATM (Serine-protein kinase ATM)
C12* (p.Cys12Ter) in ATM (Serine-protein kinase ATM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- rs2135005147
- ClinGen CA382519094
- ClinVar RCV002715095
- Ensembl rs2135005147
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.96
- MetaLR 0.36
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)