Y91H (p.Tyr91His) variant of CACNA1S (Q13698)
Y91H (p.Tyr91His) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs1572064231
- ClinGen CA344145961
- ClinVar RCV003783396
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.58
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)