D71H (p.Asp71His) variant of NRXN2 (Neurexin-2)
D71H (p.Asp71His) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D71H (p.Asp71His) variant details
- p.Asp71His
- ExAC rs762854242
- gnomAD rs762854242
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.80
- MetaLR 0.68
- MetaSVM 0.50
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available