H30Y (p.His30Tyr) variant of SYNGAP1 (Q96PV0)
H30Y (p.His30Tyr) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs1776861012
- ClinGen CA363677863
- ClinVar RCV001248238
- TOPMed rs1776861012
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.13
- MetaLR 0.04
- MetaSVM -1.15
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)