P157A (p.Pro157Ala) variant of NRXN2 (Neurexin-2)
P157A (p.Pro157Ala) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P157A (p.Pro157Ala) variant details
- p.Pro157Ala
- TOPMed rs1248456352
- gnomAD rs1248456352
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- MetaLR 0.27
- MetaSVM -0.78
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available