R101* (p.Arg101Ter) variant of NLGN4X (Neuroligin-4, X-linked)
R101* (p.Arg101Ter) in NLGN4X (Neuroligin-4, X-linked) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R101* (p.Arg101Ter) variant details
- p.Arg101Ter
- rs756651509
- cosmic curated COSV10636
- ClinGen CA10341236
- ClinVar RCV000415088
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available