T1355N (p.Thr1355Asn) variant of CACNA1A (O00555)
T1355N (p.Thr1355Asn) 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; Migraine, familial hemiplegic, 1; Developmental and epil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T1355N (p.Thr1355Asn) variant details
- p.Thr1355Asn
- rs2056767062
- ClinGen CA404339960
- ClinVar RCV001254122
- ClinVar RCV002227260
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Migraine, familial hemiplegic, 1; Developmental and epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.76
- MutPred 0.61
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Migraine, familial hemiplegic, 1; Develo)
- 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)