R611W (p.Arg611Trp) variant of SHANK3 (Q9BYB0)
R611W (p.Arg611Trp) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Schizophrenia 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
R611W (p.Arg611Trp) variant details
- p.Arg611Trp
- rs387906933
- ClinGen CA129334
- ClinVar RCV000023520
- UniProt VAR 065800
- Pathogenic
- Schizophrenia 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.26
- MetaLR 0.13
- MetaSVM -0.97
- ClinVar: Pathogenic (Schizophrenia 15)
- EBI: Pathogenic (in SCZD15)
- UniProt: Pathogenic (in SCZD15)
- Structural context available
- Cited in: De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for… (PMID 20385823)