R16G (p.Arg16Gly) variant of DSP (Desmoplakin)
R16G (p.Arg16Gly) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- ExAC rs754773488
- gnomAD rs754773488
- Likely benign
- Missense
- MetaLR 0.31
- MetaSVM -0.33
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available