G6C (p.Gly6Cys) variant of NLGN3 (Neuroligin-3)
G6C (p.Gly6Cys) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD X-71147765-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.23
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available