G2E (p.Gly2Glu) variant of NRXN1 (Neurexin-1)
G2E (p.Gly2Glu) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- cosmic curated COSV10533
- Ensembl rs947102418
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available