L9R (p.Leu9Arg) variant of ATM (Serine-protein kinase ATM)
L9R (p.Leu9Arg) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- gnomAD 11-108227650-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- MetaLR 0.26
- MetaSVM -0.72
- CADD 24.20
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available