Y18C (p.Tyr18Cys) variant of SYNGAP1 (Q96PV0)
Y18C (p.Tyr18Cys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- rs1352724089
- TOPMed rs1352724089
- gnomAD rs1352724089
- ClinGen CA363677133
- Uncertain significance
- Intellectual disability, autosomal dominant 5; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 23.00
- PolyPhen-2 0.21
- SIFT 0.11
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)