Q78L (p.Gln78Leu) variant of KCNQ3 (O43525)
Q78L (p.Gln78Leu) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes published literature and structural context.
Q78L (p.Gln78Leu) variant details
- p.Gln78Leu
- rs2537398279
- ClinGen CA372292630
- ClinVar RCV003253811
- Likely benign
- Inborn genetic diseases
- Missense
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- 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)