E21A (p.Glu21Ala) variant of DSP (Desmoplakin)
E21A (p.Glu21Ala) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ARVD8. The record also includes structural context.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- TOPMed rs1014465935
- gnomAD rs1014465935
- Uncertain significance
- in ARVD8
- Missense
- EBI: uncertain significance (in ARVD8)
- UniProt: Uncertain significance (in ARVD8)
- Structural context available