H36Y (p.His36Tyr) variant of SYNGAP1 (Q96PV0)
H36Y (p.His36Tyr) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- rs1240375748
- ClinGen CA363677946
- ClinVar RCV003005649
- gnomAD rs1240375748
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)