E53Q (p.Glu53Gln) variant of NRXN1 (Neurexin-1)
E53Q (p.Glu53Gln) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- TOPMed rs1323402886
- gnomAD rs1323402886
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.53
- CADD 23.50
- PolyPhen-2 0.82
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available