N6M (p.Asn6Met) variant of ATM (Serine-protein kinase ATM)
N6M (p.Asn6Met) in ATM (Serine-protein kinase ATM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N6M (p.Asn6Met) variant details
- p.Asn6Met
- gnomAD 11-108227636-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available