F62Y (p.Phe62Tyr) variant of SHANK3 (Q9BYB0)
F62Y (p.Phe62Tyr) in SHANK3 (Q9BYB0) is a missense 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.
F62Y (p.Phe62Tyr) variant details
- p.Phe62Tyr
- gnomAD 22-50675151-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.08
- CADD 24.50
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available