A54T (p.Ala54Thr) variant of NLGN3 (Neuroligin-3)
A54T (p.Ala54Thr) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1357228339
- ClinGen CA413547239
- ClinVar RCV003123233
- TOPMed rs1357228339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available