A39A (p.Ala39Ala) variant of SHANK3 (Q9BYB0)
A39A (p.Ala39Ala) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs769450356
- gnomAD 22-50675089-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available