L8L (p.Leu8Leu) variant of ATM (Serine-protein kinase ATM)
L8L (p.Leu8Leu) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs1555053888
- gnomAD 11-108227648-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 8.96
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available