M1? variant of ATM (Serine-protein kinase ATM)
M1? in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M1? variant details
- rs730881359
- ClinGen CA197028
- NCI-TCGA Cosmic COSV5372
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.74
- SIFT 0.00
- MutPred 0.99
- 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)