S4G (p.Ser4Gly) variant of SHANK3 (Q9BYB0)
S4G (p.Ser4Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD 22-50674660-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.01
- CADD 22.50
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available