G64D (p.Gly64Asp) variant of SHANK3 (Q9BYB0)
G64D (p.Gly64Asp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G64D (p.Gly64Asp) variant details
- p.Gly64Asp
- gnomAD 22-50675178-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.19
- CADD 26.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available