G52G (p.Gly52Gly) variant of SHANK3 (Q9BYB0)
G52G (p.Gly52Gly) in SHANK3 (Q9BYB0) is a synonymous 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.
G52G (p.Gly52Gly) variant details
- p.Gly52Gly
- rs1224305567
- gnomAD 22-50675146-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available