T100K (p.Thr100Lys) variant of NLGN3 (Neuroligin-3)
T100K (p.Thr100Lys) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T100K (p.Thr100Lys) variant details
- p.Thr100Lys
- gnomAD X-71148048-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available