R2909T (p.Arg2909Thr) variant of ATM (Serine-protein kinase ATM)
R2909T (p.Arg2909Thr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ataxia-telangiectasia syndrome. The record also includes structural context.
R2909T (p.Arg2909Thr) variant details
- p.Arg2909Thr
- cosmic curated COSV10807
- ExAC rs759905760
- gnomAD rs759905760
- Likely pathogenic
- Ataxia-telangiectasia syndrome
- Missense
- ClinVar: Likely pathogenic (Ataxia-telangiectasia syndrome)
- EBI: Variant of uncertain significance (in AT)
- UniProt: Uncertain significance (in AT)
- Structural context available