Q55K (p.Gln55Lys) variant of SYNGAP1 (Q96PV0)
Q55K (p.Gln55Lys) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q55K (p.Gln55Lys) variant details
- p.Gln55Lys
- rs752176449
- ClinGen CA137092872
- ClinVar RCV000623513
- ClinVar RCV001300832
- Uncertain significance
- Inborn genetic diseases; Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.98
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; Intellectual disability, autosomal domi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)