R3W (p.Arg3Trp) variant of NLGN4X (Neuroligin-4, X-linked)
R3W (p.Arg3Trp) 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 0.17 / 1. The record also includes population frequency data and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs770584895
- 1000Genomes rs770584895
- ExAC rs770584895
- TOPMed rs770584895
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -1.02
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:JAPANESE population (allele frequency 0.029)
- Structural context available