Q94Q (p.Gln94Gln) variant of SHANK3 (Q9BYB0)
Q94Q (p.Gln94Gln) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q94Q (p.Gln94Gln) variant details
- p.Gln94Gln
- rs773912444
- gnomAD 22-50675155-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available