G64C (p.Gly64Cys) variant of SHANK3 (Q9BYB0)
G64C (p.Gly64Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G64C (p.Gly64Cys) variant details
- p.Gly64Cys
- rs1455489739
- gnomAD 22-50675177-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.15
- CADD 29.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available