P742S (p.Pro742Ser) variant of CACNA1S (Q13698)
P742S (p.Pro742Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital myopathy 18. The record also includes published literature and structural context.
P742S (p.Pro742Ser) variant details
- p.Pro742Ser
- rs2464546834
- ClinGen CA344111792
- ClinVar RCV003120264
- ClinVar RCV003222483
- Pathogenic
- not provided; Congenital myopathy 18
- Missense
- ClinVar: Pathogenic (not provided; Congenital myopathy 18)
- EBI: Pathogenic (in CMYO18)
- UniProt: Pathogenic (in CMYO18)
- Structural context available
- Cited in: Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. (PMID 28012042)
- Cited in: Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. (PMID 31227654)