E26D (p.Glu26Asp) variant of ATM (Serine-protein kinase ATM)
E26D (p.Glu26Asp) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- rs786202953
- ClinGen CA194814
- cosmic curated COSV10584
- ClinVar RCV000166031
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)