Y91F (p.Tyr91Phe) variant of CACNA1S (Q13698)
Y91F (p.Tyr91Phe) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myopathy 18; not provided; Thyrotoxic periodic paralysis, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y91F (p.Tyr91Phe) variant details
- p.Tyr91Phe
- rs1013152799
- ClinGen CA35998528
- ClinVar RCV001061814
- ClinVar RCV002267071
- Uncertain significance
- Congenital myopathy 18; not provided; Thyrotoxic periodic paralysis, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.86
- CADD 27.00
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital myopathy 18; not provided; Thyrotoxic periodic paraly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)