E22E (p.Glu22Glu) variant of ATM (Serine-protein kinase ATM)
E22E (p.Glu22Glu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs1185359350
- gnomAD 11-108227690-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 13.40
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available