A96V (p.Ala96Val) variant of NRXN2 (Neurexin-2)
A96V (p.Ala96Val) 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 0.65 / 1. The record also includes population frequency data and structural context.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- rs751385058
- ClinGen CA6078725
- ClinVar RCV004261101
- ExAC rs751385058
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.23
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available