D67E (p.Asp67Glu) variant of SMARCE1 (Q969G3)
D67E (p.Asp67Glu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SMARCE1-related disorder. The record also includes experimental measurements and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- rs2508606741
- ClinGen CA399367843
- ClinVar RCV003391374
- Uncertain significance
- SMARCE1-related disorder
- Missense
- ClinVar: Uncertain significance (SMARCE1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.0309