S4C (p.Ser4Cys) variant of SHANK3 (Q9BYB0)
S4C (p.Ser4Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- rs2082904705
- gnomAD 22-50674660-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 24.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available