G33V (p.Gly33Val) variant of SHANK3 (Q9BYB0)
G33V (p.Gly33Val) 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.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- gnomAD 22-50674649-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.08
- CADD 23.30
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available