R55* (p.Arg55Ter) variant of NLGN3 (Neuroligin-3)
R55* (p.Arg55Ter) in NLGN3 (Neuroligin-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- rs759137635
- ClinGen CA10444973
- ClinVar RCV003150609
- ExAC rs759137635
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.71
- MetaLR 0.42
- MetaSVM -0.27
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available