A30D (p.Ala30Asp) variant of SHANK3 (Q9BYB0)
A30D (p.Ala30Asp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 22-50675085-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.13
- CADD 22.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available