K24R (p.Lys24Arg) variant of ATM (Serine-protein kinase ATM)
K24R (p.Lys24Arg) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs2496890418
- ClinGen CA2580082994
- ClinVar RCV002370847
- ClinVar RCV004055749
- Pathogenic
- Missense
- 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)