E26A (p.Glu26Ala) variant of NRXN1 (Neurexin-1)
E26A (p.Glu26Ala) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E26A (p.Glu26Ala) variant details
- p.Glu26Ala
- rs1345161055
- gnomAD 2-49973978-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 20.10
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available