G9E (p.Gly9Glu) variant of NRXN1 (Neurexin-1)
G9E (p.Gly9Glu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- rs1670933863
- ClinGen CA346824861
- ClinVar RCV002914865
- TOPMed rs1670933863
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.26
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.2e-05)
- Structural context available