E42D (p.Glu42Asp) variant of SHANK2 (Q9UPX8)
E42D (p.Glu42Asp) in SHANK2 (Q9UPX8) is a missense change.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- ExAC rs782805943
- gnomAD rs782805943
- Missense
E42D (p.Glu42Asp) in SHANK2 (Q9UPX8) is a missense change.