Q42K (p.Gln42Lys) variant of NLGN4X (Neuroligin-4, X-linked)
Q42K (p.Gln42Lys) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
Q42K (p.Gln42Lys) variant details
- p.Gln42Lys
- ExAC rs779740657
- TOPMed rs779740657
- gnomAD rs779740657
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.61
- CADD 18.30
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available