W7G (p.Trp7Gly) variant of NRXN2 (Neurexin-2)
W7G (p.Trp7Gly) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
W7G (p.Trp7Gly) variant details
- p.Trp7Gly
- rs977042363
- ClinGen CA381121792
- ClinVar RCV004220592
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -0.94
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.7e-05)
- Structural context available