L744Q (p.Leu744Gln) variant of SCN10A (Nav1.8)
L744Q (p.Leu744Gln) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Episodic pain syndrome, familial, 2. The record also includes variant effect predictions and structural context.
L744Q (p.Leu744Gln) variant details
- p.Leu744Gln
- TOPMed rs907199641
- gnomAD rs907199641
- Likely pathogenic
- Episodic pain syndrome, familial, 2
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- ClinVar: Likely pathogenic (Episodic pain syndrome, familial, 2)
- UniProt: Likely pathogenic
- Structural context available