Q14* (p.Gln14Ter) variant of ATM (Serine-protein kinase ATM)
Q14* (p.Gln14Ter) 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 0.35 / 1. The record also includes published literature and structural context.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- rs2135005331
- ClinGen CA382519119
- cosmic curated COSV53726
- ClinVar RCV002815780
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.20
- EVE 0.26
- 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)