R279C (p.Arg279Cys) variant of CACNA1A (O00555)
R279C (p.Arg279Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CACNA1A-related complex neurodevelopmental disorder; Episodic ataxia type 2; Mig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R279C (p.Arg279Cys) variant details
- p.Arg279Cys
- rs1555773764
- ClinGen CA404347323
- ClinVar RCV000656726
- ClinVar RCV000991686
- Pathogenic/Likely pathogenic
- CACNA1A-related complex neurodevelopmental disorder; Episodic ataxia type 2; Mig
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.79
- SIFT 0.01
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (CACNA1A-related complex neurodevelopmental disorder; Episodic at)
- 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)