D1643N (p.Asp1643Asn) variant of CACNA1A (O00555)
D1643N (p.Asp1643Asn) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; CACNA1A-related disorder; Episod. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D1643N (p.Asp1643Asn) variant details
- p.Asp1643Asn
- rs1064795531
- ClinGen CA16620781
- cosmic curated COSV10080
- ClinVar RCV000480159
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; CACNA1A-related disorder; Episod
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.74
- MutPred 0.75
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; CACNA1A-related)
- 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)