S38G (p.Ser38Gly) variant of SHANK3 (Q9BYB0)
S38G (p.Ser38Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- gnomAD 22-50675120-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.09
- CADD 24.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available