Q2Q (p.Gln2Gln) variant of SHANK3 (Q9BYB0)
Q2Q (p.Gln2Gln) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q2Q (p.Gln2Gln) variant details
- p.Gln2Gln
- gnomAD 22-50674698-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available