E26Q (p.Glu26Gln) variant of ATM (Serine-protein kinase ATM)
E26Q (p.Glu26Gln) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs730881361
- ClinGen CA298210
- ClinVar RCV000159711
- ClinVar RCV000215116
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.35
- MetaLR 0.28
- MetaSVM -0.59
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)