T83P (p.Thr83Pro) variant of NLGN4X (Neuroligin-4, X-linked)
T83P (p.Thr83Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
T83P (p.Thr83Pro) variant details
- p.Thr83Pro
- rs2147701921
- ClinGen CA412015154
- ClinVar RCV001757041
- Ensembl rs2147701921
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.54
- MetaLR 0.49
- MetaSVM 0.09
- PolyPhen-2 0.89
- SIFT 0.01
- EVE 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available