A43T (p.Ala43Thr) variant of NLGN4X (Neuroligin-4, X-linked)
A43T (p.Ala43Thr) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- ExAC rs757967262
- TOPMed rs757967262
- gnomAD rs757967262
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.91
- CADD 14.00
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available