S1372L (p.Ser1372Leu) variant of CACNA1A (O00555)
S1372L (p.Ser1372Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects. The record also includes published literature and structural context.
S1372L (p.Ser1372Leu) variant details
- p.Ser1372Leu
- rs2512759522
- ClinGen CA404339838
- ClinVar RCV003985148
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, language delay, and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CACNA1C-Related Disorders. (PMID 20301577)