G33R (p.Gly33Arg) variant of SHANK3 (Q9BYB0)
G33R (p.Gly33Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- gnomAD 22-50674648-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 24.40
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available