R1454Q (p.Arg1454Gln) variant of SCN4A (Nav1.4)
R1454Q (p.Arg1454Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1454Q (p.Arg1454Gln) variant details
- p.Arg1454Gln
- rs374074988
- ClinGen CA8708982
- ClinVar RCV002002889
- ESP rs374074988
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- CADD 24.40
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance (in CMS16 and CMYO22A)
- UniProt: Uncertain significance (in CMS16 and CMYO22A)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)