R1358W (p.Arg1358Trp) variant of CACNA1A (O00555)
R1358W (p.Arg1358Trp) 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; Developmental and epileptic encephalopathy, 42; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1358W (p.Arg1358Trp) variant details
- p.Arg1358Trp
- rs1555745461
- ClinGen CA404339944
- ClinVar RCV000523450
- ClinVar RCV001252961
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)