T35A (p.Thr35Ala) variant of CACNA1S (Q13698)
T35A (p.Thr35Ala) 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 0.35 / 1. The record also includes published literature and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs1663150760
- ClinGen CA344157957
- ClinVar RCV001883625
- TOPMed rs1663150760
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -0.84
- PolyPhen-2 0.38
- SIFT 0.04
- MutPred 0.34
- 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)