S64N (p.Ser64Asn) variant of SCN8A (Q9UQD0)
S64N (p.Ser64Asn) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- rs2540119566
- ClinGen CA385228238
- ClinVar RCV003754595
- ClinVar RCV005230546
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)