E21G (p.Glu21Gly) variant of DSP (Desmoplakin)
E21G (p.Glu21Gly) 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 variant effect predictions and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- TOPMed rs1014465935
- gnomAD rs1014465935
- Uncertain significance
- in ARVD8
- Missense
- MetaLR 0.25
- MetaSVM -0.51
- SIFT 0.18
- EBI: uncertain significance (in ARVD8)
- UniProt: Uncertain significance (in ARVD8)
- Structural context available