S4Y (p.Ser4Tyr) variant of SYNGAP1 (Q96PV0)
S4Y (p.Ser4Tyr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- gnomAD 6-33420275-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 23.50
- PolyPhen-2 0.61
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available