L66* (p.Leu66Ter) variant of FOXP2 (Forkhead box protein P2)
L66* (p.Leu66Ter) in FOXP2 (Forkhead box protein P2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L66* (p.Leu66Ter) variant details
- p.Leu66Ter
- rs1554412300
- ClinGen CA369106016
- ClinVar RCV000624216
- Ensembl rs1554412300
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)