Q3E (p.Gln3Glu) variant of DES (Desmin)
Q3E (p.Gln3Glu) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DES-related disorder. The record also includes structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- rs1954358233
- ClinGen CA350681960
- ClinVar RCV003405870
- Uncertain significance
- DES-related disorder
- Missense
- ClinVar: Uncertain significance (DES-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available