N6* (p.Asn6Ter) variant of ATM (Serine-protein kinase ATM)
N6* (p.Asn6Ter) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N6* (p.Asn6Ter) variant details
- p.Asn6Ter
- rs876660842
- ClinGen CA10578937
- ClinVar RCV000213282
- ClinVar RCV000485951
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 27.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)