L15* (p.Leu15Ter) variant of ATM (Serine-protein kinase ATM)
L15* (p.Leu15Ter) in ATM (Serine-protein kinase ATM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L15* (p.Leu15Ter) variant details
- p.Leu15Ter
- rs771887195
- gnomAD 11-108227666-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available