G64A (p.Gly64Ala) variant of SHANK3 (Q9BYB0)
G64A (p.Gly64Ala) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G64A (p.Gly64Ala) variant details
- p.Gly64Ala
- gnomAD 22-50675165-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available