E37Q (p.Glu37Gln) variant of NRXN1 (Neurexin-1)
E37Q (p.Glu37Gln) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs910774989
- ClinGen CA48054941
- ClinVar RCV001757397
- gnomAD rs910774989
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.36
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available