V1455M (p.Val1455Met) variant of CACNA1A (O00555)
V1455M (p.Val1455Met) 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; Seizure. 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.
V1455M (p.Val1455Met) variant details
- p.Val1455Met
- rs121908237
- ClinGen CA404339250
- cosmic curated COSV10746
- ClinVar RCV001217912
- Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.92
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)