K192R (p.Lys192Arg) variant of SHANK3 (Q9BYB0)
K192R (p.Lys192Arg) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phelan-McDermid syndrome. The record also includes published literature and structural context.
K192R (p.Lys192Arg) variant details
- p.Lys192Arg
- rs2518373750
- ClinGen CA515252479
- ClinVar RCV003136673
- Uncertain significance
- Phelan-McDermid syndrome
- Missense
- ClinVar: Uncertain significance (Phelan-McDermid syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phelan-McDermid Syndrome-SHANK3 Related. (PMID 20301377)