A64G (p.Ala64Gly) variant of NRXN2 (Neurexin-2)
A64G (p.Ala64Gly) 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 0.32 / 1. The record also includes population frequency data and structural context.
A64G (p.Ala64Gly) variant details
- p.Ala64Gly
- rs750652259
- ClinGen CA6078743
- cosmic curated COSV10584
- ClinVar RCV004349237
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.01
- CADD 20.00
- PolyPhen-2 0.09
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available