P69S (p.Pro69Ser) variant of NLGN4X (Neuroligin-4, X-linked)
P69S (p.Pro69Ser) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- rs915922545
- ClinGen CA326330652
- cosmic curated COSV10730
- ClinVar RCV002248049
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.49
- MetaLR 0.27
- MetaSVM -0.52
- CADD 22.30
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available