C11G (p.Cys11Gly) variant of NRXN1 (Neurexin-1)
C11G (p.Cys11Gly) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C11G (p.Cys11Gly) variant details
- p.Cys11Gly
- rs1201505710
- gnomAD 2-49973982-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 20.30
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5e-05)
- Structural context available
- Literature evidence available