C89Y (p.Cys89Tyr) variant of SHANK2 (Q9UPX8)
C89Y (p.Cys89Tyr) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
C89Y (p.Cys89Tyr) variant details
- p.Cys89Tyr
- 1000Genomes rs530759559
- ExAC rs530759559
- gnomAD rs530759559
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 23.50
- Most common in the 1KG:ITU population (allele frequency 0.0049)