S17Y (p.Ser17Tyr) variant of SYNGAP1 (Q96PV0)
S17Y (p.Ser17Tyr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- gnomAD 6-33420314-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available