R32K (p.Arg32Lys) variant of MRE11 (P49959)
R32K (p.Arg32Lys) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder. The record also includes structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- rs2496653045
- ClinGen CA382380780
- ClinVar RCV002846825
- NCI-TCGA TCGA novel
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available