M1V (p.Met1Val) variant of CACNA1S (Q13698)
M1V (p.Met1Val) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18; Hyp. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs201803122
- ClinGen CA078742
- ClinVar RCV001216369
- ClinVar RCV005012623
- Uncertain significance
- Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18; Hyp
- Missense
- MetaLR 0.90
- MetaSVM 0.21
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)