A23E (p.Ala23Glu) variant of SCN1A (P35498)
A23E (p.Ala23Glu) in SCN1A (P35498) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- rs139397227
- ClinGen CA317363
- cosmic curated COSV57661
- ClinVar RCV000188916
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 24.50
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)