G33C (p.Gly33Cys) variant of SHANK3 (Q9BYB0)
G33C (p.Gly33Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- gnomAD 22-50674648-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 25.30
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available