R56Q (p.Arg56Gln) variant of NLGN4X (Neuroligin-4, X-linked)
R56Q (p.Arg56Gln) in NLGN4X (Neuroligin-4, X-linked) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- 1000Genomes rs780822846
- ExAC rs780822846
- gnomAD rs780822846
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.53
- MetaLR 0.37
- MetaSVM -0.36
- CADD 22.60
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the 1KG:PEL population (allele frequency 0.0078)
- Structural context available