R192W (p.Arg192Trp) variant of CACNA1A (O00555)
R192W (p.Arg192Trp) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R192W (p.Arg192Trp) variant details
- p.Arg192Trp
- rs1057518779
- ClinGen CA16043551
- ClinVar RCV000415249
- ClinVar RCV000803741
- Conflicting interpretations
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.07
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)