E22Q (p.Glu22Gln) variant of ATM (Serine-protein kinase ATM)
E22Q (p.Glu22Gln) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- TOPMed rs2078810264
- gnomAD rs2078810264
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.30
- MetaLR 0.42
- MetaSVM -0.17
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available