G33S (p.Gly33Ser) variant of SHANK3 (Q9BYB0)
G33S (p.Gly33Ser) 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.
G33S (p.Gly33Ser) variant details
- p.Gly33Ser
- rs1206111283
- gnomAD 22-50674648-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- CADD 21.60
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available