E30A (p.Glu30Ala) variant of NRXN2 (Neurexin-2)
E30A (p.Glu30Ala) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- rs1242956504
- ClinGen CA381121336
- ClinVar RCV003488163
- 1000Genomes rs1242956504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.42
- MetaLR 0.35
- MetaSVM -0.52
- CADD 24.10
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available