S4A (p.Ser4Ala) variant of SHANK3 (Q9BYB0)
S4A (p.Ser4Ala) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- gnomAD 22-50674659-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available