L3L (p.Leu3Leu) variant of ATM (Serine-protein kinase ATM)
L3L (p.Leu3Leu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs7112053
- gnomAD 11-108227631-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available