A6A (p.Ala6Ala) variant of SHANK3 (Q9BYB0)
A6A (p.Ala6Ala) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 22-50674659-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available