C226Y (p.Cys226Tyr) variant of SHANK3 (Q9BYB0)
C226Y (p.Cys226Tyr) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
C226Y (p.Cys226Tyr) variant details
- p.Cys226Tyr
- rs767264001
- ClinGen CA515253072
- ClinVar RCV003129364
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.90
- MetaLR 0.16
- MetaSVM -0.94
- MutPred 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available