Q112P (p.Gln112Pro) variant of SHANK3 (Q9BYB0)
Q112P (p.Gln112Pro) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Phelan-McDermid syndrome. The record also includes published literature and structural context.
Q112P (p.Gln112Pro) variant details
- p.Gln112Pro
- rs2518368954
- ClinGen CA515251126
- ClinVar RCV003154090
- Likely benign
- Phelan-McDermid syndrome
- Missense
- ClinVar: Likely benign (Phelan-McDermid syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Phelan-McDermid Syndrome-SHANK3 Related. (PMID 20301377)