A76T (p.Ala76Thr) variant of NLGN3 (Neuroligin-3)
A76T (p.Ala76Thr) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- rs2092376950
- ClinGen CA413547568
- ClinVar RCV002474215
- TOPMed rs2092376950
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available