A4E (p.Ala4Glu) variant of NRXN1 (Neurexin-1)
A4E (p.Ala4Glu) in NRXN1 (Neurexin-1) 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 0.35 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD rs1198368082
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.21
- CADD 20.20
- PolyPhen-2 0.07
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available