S57Y (p.Ser57Tyr) variant of SHANK3 (Q9BYB0)
S57Y (p.Ser57Tyr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S57Y (p.Ser57Tyr) variant details
- p.Ser57Tyr
- gnomAD 22-50675163-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.17
- CADD 18.40
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available