S1798P (p.Ser1798Pro) variant of CACNA1A (O00555)
S1798P (p.Ser1798Pro) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S1798P (p.Ser1798Pro) variant details
- p.Ser1798Pro
- rs1568443280
- ClinGen CA404334255
- ClinVar RCV000762256
- ClinVar RCV006556624
- Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.73
- MutPred 0.81
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely 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)