E26* (p.Glu26Ter) variant of ATM (Serine-protein kinase ATM)
E26* (p.Glu26Ter) 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 0.45 / 1. The record also includes published literature and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- rs730881361
- ClinGen CA382519475
- cosmic curated COSV10437
- ClinVar RCV003500339
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.35
- MetaLR 0.28
- MetaSVM -0.59
- PolyPhen-2 0.94
- SIFT 0.19
- EVE 0.58
- 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)