G38G (p.Gly38Gly) variant of NRXN1 (Neurexin-1)
G38G (p.Gly38Gly) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G38G (p.Gly38Gly) variant details
- p.Gly38Gly
- rs983505229
- gnomAD 2-49926389-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.33
- Most common in the REMAINING population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available