R31Q (p.Arg31Gln) variant of SCN4A (Nav1.4)
R31Q (p.Arg31Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs112142736
- ClinGen CA8710290
- ClinVar RCV003086824
- ClinVar RCV003138511
- Uncertain significance
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)