A64V (p.Ala64Val) variant of NRXN2 (Neurexin-2)
A64V (p.Ala64Val) in NRXN2 (Neurexin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- ExAC rs750652259
- TOPMed rs750652259
- gnomAD rs750652259
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.66
- MetaLR 0.57
- MetaSVM -0.04
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available