E16E (p.Glu16Glu) variant of ATM (Serine-protein kinase ATM)
E16E (p.Glu16Glu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E16E (p.Glu16Glu) variant details
- p.Glu16Glu
- rs774768437
- gnomAD 11-108227672-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available