A21E (p.Ala21Glu) variant of NRXN2 (Neurexin-2)
A21E (p.Ala21Glu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- TOPMed rs1215853542
- gnomAD rs1215853542
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.05
- CADD 6.69
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available