V72C (p.Val72Cys) variant of NLGN3 (Neuroligin-3)
V72C (p.Val72Cys) in NLGN3 (Neuroligin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V72C (p.Val72Cys) variant details
- p.Val72Cys
- gnomAD X-71147958-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available