E22V (p.Glu22Val) variant of ATM (Serine-protein kinase ATM)
E22V (p.Glu22Val) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- TOPMed rs2078810362
- gnomAD rs2078810362
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available