Y18S (p.Tyr18Ser) variant of SYNGAP1 (Q96PV0)
Y18S (p.Tyr18Ser) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y18S (p.Tyr18Ser) variant details
- p.Tyr18Ser
- gnomAD 6-33420317-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available