D7del (p.Asp7del) variant of ATM (Serine-protein kinase ATM)
D7del (p.Asp7del) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D7del (p.Asp7del) variant details
- gnomAD 11-108227640-AATG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 19.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available