R1872Q (p.Arg1872Gln) variant of SCN8A (Nav1.6)
R1872Q (p.Arg1872Gln) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1872Q (p.Arg1872Gln) variant details
- p.Arg1872Gln
- rs796053229
- ClinGen CA10586302
- ClinVar RCV000239745
- ClinVar RCV000523884
- Uncertain significance
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.91
- MetaSVM 1.02
- CADD 25.80
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Pathogenic (in DEE13)
- UniProt: Pathogenic (in DEE13)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: The phenotypic spectrum of SCN8A encephalopathy. (PMID 25568300)
- Cited in: Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. (PMID 26900580)