S57P (p.Ser57Pro) variant of SHANK3 (Q9BYB0)
S57P (p.Ser57Pro) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- gnomAD 22-50675158-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available