L5L (p.Leu5Leu) variant of ATM (Serine-protein kinase ATM)
L5L (p.Leu5Leu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs1357506783
- gnomAD 11-108227639-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 9.93
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available