H113N (p.His113Asn) variant of NRXN2 (Neurexin-2)
H113N (p.His113Asn) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H113N (p.His113Asn) variant details
- p.His113Asn
- TOPMed rs1285641486
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- MetaLR 0.80
- MetaSVM 0.79
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available