P28T (p.Pro28Thr) variant of CACNA1S (Q13698)
P28T (p.Pro28Thr) 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; not provided; Hypokalemic periodic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- rs1297380219
- ClinGen CA344158185
- ClinVar RCV002265455
- ClinVar RCV003774834
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; not provided; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.64
- PolyPhen-2 0.38
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; not provided; Hypo)
- 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)