A1807S (p.Ala1807Ser) variant of CACNA1A (O00555)
A1807S (p.Ala1807Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Generali. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A1807S (p.Ala1807Ser) variant details
- p.Ala1807Ser
- rs1555736565
- ClinGen CA404333760
- ClinVar RCV000626755
- ClinVar RCV005213366
- Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Generali
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.75
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.76
- MutPred 0.77
- ClinVar: Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)