R28C (p.Arg28Cys) variant of SCN8A (Q9UQD0)
R28C (p.Arg28Cys) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs768570935
- ClinGen CA6570992
- NCI-TCGA Cosmic COSV6198
- cosmic curated COSV61980
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.10
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)