E85D (p.Glu85Asp) variant of NLGN4X (Neuroligin-4, X-linked)
E85D (p.Glu85Asp) 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 0.21 / 1. The record also includes population frequency data and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- ExAC rs779795912
- TOPMed rs779795912
- gnomAD rs779795912
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.25
- MetaLR 0.13
- MetaSVM -1.07
- CADD 3.13
- PolyPhen-2 0.02
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available