A43G (p.Ala43Gly) variant of SHANK3 (Q9BYB0)
A43G (p.Ala43Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A43G (p.Ala43Gly) variant details
- p.Ala43Gly
- gnomAD 22-50675109-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.05
- CADD 24.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available