E26Q (p.Glu26Gln) variant of SCN2A (Q99250)
E26Q (p.Glu26Gln) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs1439524882
- ClinGen CA349009870
- ClinVar RCV001786713
- ClinVar RCV005732477
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.40
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.071)
- 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)