R23R (p.Arg23Arg) variant of ATM (Serine-protein kinase ATM)
R23R (p.Arg23Arg) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R23R (p.Arg23Arg) variant details
- p.Arg23Arg
- rs876659304
- gnomAD 11-108227693-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 14.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available