P103T (p.Pro103Thr) variant of NLGN3 (Neuroligin-3)
P103T (p.Pro103Thr) in NLGN3 (Neuroligin-3) 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 0.37 / 1. The record also includes published literature and structural context.
P103T (p.Pro103Thr) variant details
- p.Pro103Thr
- rs1288368410
- ClinGen CA413548132
- ClinVar RCV004493329
- TOPMed rs1288368410
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.25
- MetaLR 0.18
- MetaSVM -0.61
- PolyPhen-2 0.02
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)