R32R (p.Arg32Arg) variant of ATM (Serine-protein kinase ATM)
R32R (p.Arg32Arg) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- rs1305090923
- gnomAD 11-108227799-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.73
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available