L33L (p.Leu33Leu) variant of ATM (Serine-protein kinase ATM)
L33L (p.Leu33Leu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L33L (p.Leu33Leu) variant details
- p.Leu33Leu
- rs1057522542
- gnomAD 11-108227800-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 8.52
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available