E26Q (p.Glu26Gln) variant of NRXN1 (Neurexin-1)
E26Q (p.Glu26Gln) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs201847846
- ClinGen CA1655564
- ClinVar RCV000498110
- ClinVar RCV001225086
- Uncertain significance
- Pitt-Hopkins-like syndrome 2; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.40
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.51
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2; Inborn genetic diseases; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)