Q30H (p.Gln30His) variant of SCN4A (Nav1.4)
Q30H (p.Gln30His) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- rs945475945
- ClinGen CA292972907
- ClinVar RCV002615551
- gnomAD rs945475945
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.28
- CADD 18.10
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)