R897S (p.Arg897Ser) variant of CACNA1S (Q13698)
R897S (p.Arg897Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R897S (p.Arg897Ser) variant details
- p.Arg897Ser
- rs80338779
- ClinGen CA344102555
- ClinVar RCV001310555
- Ensembl rs80338779
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.90
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. (PMID 18835861)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)