G33A (p.Gly33Ala) variant of SHANK3 (Q9BYB0)
G33A (p.Gly33Ala) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD 22-50674649-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.08
- CADD 22.90
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available