Q44E (p.Gln44Glu) variant of NLGN4X (Neuroligin-4, X-linked)
Q44E (p.Gln44Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- gnomAD rs1345443545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.94
- CADD 8.75
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available