D84E (p.Asp84Glu) variant of NRXN2 (Neurexin-2)
D84E (p.Asp84Glu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D84E (p.Asp84Glu) variant details
- p.Asp84Glu
- ExAC rs780155507
- gnomAD rs780155507
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.16
- MetaLR 0.27
- MetaSVM -0.68
- CADD 13.10
- PolyPhen-2 0.10
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available