E16* (p.Glu16Ter) variant of ATM (Serine-protein kinase ATM)
E16* (p.Glu16Ter) 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.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- rs2135005753
- ClinGen CA382519170
- ClinVar RCV003606290
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.26
- MetaLR 0.34
- MetaSVM -0.42
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.48
- 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)