V152A (p.Val152Ala) variant of NRXN2 (Neurexin-2)
V152A (p.Val152Ala) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V152A (p.Val152Ala) variant details
- p.Val152Ala
- gnomAD rs1425849678
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.81
- MetaLR 0.67
- MetaSVM 0.42
- CADD 27.60
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available