p.Gln14 Glu16del variant of ATM (Serine-protein kinase ATM)

Name: ATM p.Gln14 Glu16del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

p.Gln14 Glu16del in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.

p.Gln14 Glu16del variant details

gnomAD 11-108227663-TCAA
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.222
CADD 19.90
Most common in the Non-Finnish European population (allele frequency 4.5e-06)
Structural context available
Literature evidence available