S57F (p.Ser57Phe) variant of SHANK3 (Q9BYB0)
S57F (p.Ser57Phe) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- rs1422757115
- gnomAD 22-50675163-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- CADD 20.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available