T12A (p.Thr12Ala) variant of MRE11 (P49959)
T12A (p.Thr12Ala) 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.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- rs2496653973
- ClinGen CA382381126
- ClinVar RCV003591579
- 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