S57S (p.Ser57Ser) variant of SHANK3 (Q9BYB0)
S57S (p.Ser57Ser) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S57S (p.Ser57Ser) variant details
- p.Ser57Ser
- rs753123008
- gnomAD 22-50675164-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available