G643R (p.Gly643Arg) variant of SHANK2 (Q9UPX8)
G643R (p.Gly643Arg) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autism, susceptibility to, 17.
G643R (p.Gly643Arg) variant details
- p.Gly643Arg
- rs2134275180
- ClinGen CA381957355
- ClinVar RCV001528114
- Ensembl rs2134275180
- Likely pathogenic
- Autism, susceptibility to, 17
- Missense
- ClinVar: Likely pathogenic (Autism, susceptibility to, 17)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic