S1798L (p.Ser1798Leu) variant of CACNA1A (O00555)
S1798L (p.Ser1798Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S1798L (p.Ser1798Leu) variant details
- p.Ser1798Leu
- rs1064794261
- ClinGen CA16620778
- cosmic curated COSV64192
- ClinVar RCV000485872
- Pathogenic/Likely pathogenic
- Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Migraine, familial hemiplegic, 1; Developmental and epileptic en)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)