A41E (p.Ala41Glu) variant of NLGN3 (Neuroligin-3)
A41E (p.Ala41Glu) in NLGN3 (Neuroligin-3) 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 0.26 / 1. The record also includes population frequency data and structural context.
A41E (p.Ala41Glu) variant details
- p.Ala41Glu
- TOPMed rs1433975748
- gnomAD rs1433975748
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- CADD 17.20
- PolyPhen-2 0.10
- SIFT 0.31
- 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