E30D (p.Glu30Asp) variant of NRXN2 (Neurexin-2)
E30D (p.Glu30Asp) 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.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- TOPMed rs1592312184
- gnomAD rs1592312184
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.22
- CADD 22.50
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available