E28D (p.Glu28Asp) variant of ATM (Serine-protein kinase ATM)
E28D (p.Glu28Asp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs1591446775
- Ensembl rs1591446775
- ClinGen CA382519547
- ClinVar RCV002447722
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 16.90
- PolyPhen-2 0.10
- SIFT 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)