Q331E (p.Gln331Glu) variant of SHANK3 (Q9BYB0)
Q331E (p.Gln331Glu) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
Q331E (p.Gln331Glu) variant details
- p.Gln331Glu
- rs2518375186
- ClinGen CA515254176
- ClinVar RCV002396476
- ClinVar RCV004785633
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)