R3Q (p.Arg3Gln) variant of NLGN4X (Neuroligin-4, X-linked)
R3Q (p.Arg3Gln) in NLGN4X (Neuroligin-4, X-linked) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- ESP rs139587269
- ExAC rs139587269
- TOPMed rs139587269
- gnomAD rs139587269
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.05
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available