V876E (p.Val876Glu) variant of CACNA1S (Q13698)
V876E (p.Val876Glu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypokalemic periodic paralysis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V876E (p.Val876Glu) variant details
- p.Val876Glu
- rs267606698
- ClinGen CA004028
- ClinVar RCV000019198
- Ensembl rs267606698
- Likely pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. (PMID 19779499)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)