R87C (p.Arg87Cys) variant of SHANK3 (Q9BYB0)
R87C (p.Arg87Cys) in SHANK3 (Q9BYB0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R87C (p.Arg87Cys) variant details
- p.Arg87Cys
- rs1336089966
- UniProt VAR 032804
- gnomAD rs1336089966
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -0.81
- MutPred 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. (PMID 17173049)