N97D (p.Asn97Asp) variant of SCN4A (Nav1.4)
N97D (p.Asn97Asp) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N97D (p.Asn97Asp) variant details
- p.Asn97Asp
- rs774293481
- ClinGen CA8710209
- ClinVar RCV003615579
- ExAC rs774293481
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)