T35P (p.Thr35Pro) variant of CACNA1S (Q13698)
T35P (p.Thr35Pro) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T35P (p.Thr35Pro) variant details
- p.Thr35Pro
- rs1663150760
- ClinGen CA344157959
- ClinVar RCV002922319
- ClinVar RCV006251167
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -0.84
- CADD 25.40
- PolyPhen-2 0.38
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)