Y18N (p.Tyr18Asn) variant of SYNGAP1 (Q96PV0)
Y18N (p.Tyr18Asn) 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.
Y18N (p.Tyr18Asn) variant details
- p.Tyr18Asn
- gnomAD 6-33420316-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available