G293R (p.Gly293Arg) variant of CACNA1A (O00555)
G293R (p.Gly293Arg) 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 0.90 / 1. The record also includes published literature and structural context.
G293R (p.Gly293Arg) variant details
- p.Gly293Arg
- rs121908215
- ClinGen CA254437
- ClinVar RCV000009018
- ClinVar RCV000009019
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in EA2 and SCA6)
- UniProt: Pathogenic (in EA2 and SCA6)
- Structural context available
- Cited in: Clinical spectrum of episodic ataxia type 2. (PMID 14718690)
- Cited in: CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. (PMID 15985579)