E53E (p.Glu53Glu) variant of NRXN1 (Neurexin-1)
E53E (p.Glu53Glu) in NRXN1 (Neurexin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs1425704928
- gnomAD 2-49926326-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.83
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available