D7E (p.Asp7Glu) variant of ATM (Serine-protein kinase ATM)
D7E (p.Asp7Glu) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- Ensembl rs2135004566
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available