R56W (p.Arg56Trp) variant of NLGN4X (Neuroligin-4, X-linked)
R56W (p.Arg56Trp) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- NCI-TCGA TCGA novel
- TOPMed rs2040161092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.77
- MetaLR 0.67
- MetaSVM 0.46
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available