A8D (p.Ala8Asp) variant of SHANK3 (Q9BYB0)
A8D (p.Ala8Asp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 22-50674664-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.13
- CADD 23.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available