S218L (p.Ser218Leu) variant of CACNA1A (O00555)
S218L (p.Ser218Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Developm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S218L (p.Ser218Leu) variant details
- p.Ser218Leu
- rs121908225
- ClinGen CA254473
- cosmic curated COSV64197
- ClinVar RCV000009027
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Developm
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Structural context available
- Cited in: Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and… (PMID 11409427)
- Cited in: Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L… (PMID 18313928)