K168R (p.Lys168Arg) variant of SHANK3 (Q9BYB0)
K168R (p.Lys168Arg) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SHANK3-related disorder. The record also includes structural context.
K168R (p.Lys168Arg) variant details
- p.Lys168Arg
- rs2518371253
- ClinGen CA515251914
- ClinVar RCV004539004
- Likely pathogenic
- SHANK3-related disorder
- Missense
- ClinVar: Likely pathogenic (SHANK3-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available