A65A (p.Ala65Ala) variant of SHANK3 (Q9BYB0)
A65A (p.Ala65Ala) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A65A (p.Ala65Ala) variant details
- p.Ala65Ala
- rs992533369
- gnomAD 22-50675176-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.88
- Population evidence available
- Structural context available
- Literature evidence available