E26G (p.Glu26Gly) variant of ATM (Serine-protein kinase ATM)
E26G (p.Glu26Gly) 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 0.41 / 1. The record also includes published literature and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- rs1555054052
- ClinGen CA382519490
- ClinVar RCV000529438
- ClinVar RCV004023655
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.33
- MetaLR 0.20
- MetaSVM -0.77
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.59
- 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)