R1663Q (p.Arg1663Gln) variant of CACNA1A (O00555)
R1663Q (p.Arg1663Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R1663Q (p.Arg1663Gln) variant details
- p.Arg1663Gln
- rs121908247
- ClinGen CA185906
- ClinVar RCV000059302
- ClinVar RCV000157057
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.71
- MutPred 0.87
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic (in SCA6)
- UniProt: Pathogenic (in SCA6)
- Structural context available
- Cited in: Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. (PMID 16325861)
- Cited in: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. (PMID 28742085)