E22K (p.Glu22Lys) variant of ATM (Serine-protein kinase ATM)
E22K (p.Glu22Lys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs2078810264
- ClinGen CA382519343
- ClinVar RCV002832919
- TOPMed rs2078810264
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.30
- MetaLR 0.42
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)