A83S (p.Ala83Ser) variant of SHANK2 (Q9UPX8)
A83S (p.Ala83Ser) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SHANK2-related disorder.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- rs2502057442
- ClinGen CA381960157
- ClinVar RCV004542631
- Uncertain significance
- SHANK2-related disorder
- Missense
- ClinVar: Uncertain significance (SHANK2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance