R1672H (p.Arg1672His) variant of CACNA1A (O00555)
R1672H (p.Arg1672His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1672H (p.Arg1672His) variant details
- p.Arg1672His
- rs1057519429
- ClinGen CA404336785
- cosmic curated COSV64206
- ClinVar RCV001766896
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.70
- PolyPhen-2 0.97
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)