R1666Q (p.Arg1666Gln) variant of CACNA1A (O00555)
R1666Q (p.Arg1666Gln) 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; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
R1666Q (p.Arg1666Gln) variant details
- p.Arg1666Gln
- rs1568447650
- ClinGen CA404336905
- cosmic curated COSV64207
- ClinVar RCV000710963
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- SIFT 0.00
- EVE 0.76
- MutPred 0.88
- ClinVar: Conflicting classifications of pathogenicity (not provided; Spastic ataxia)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Structural context available