T104S (p.Thr104Ser) variant of NLGN4X (Neuroligin-4, X-linked)
T104S (p.Thr104Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
T104S (p.Thr104Ser) variant details
- p.Thr104Ser
- rs2519421526
- ClinGen CA412015022
- ClinVar RCV003110124
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.51
- MetaLR 0.45
- MetaSVM -0.16
- CADD 19.70
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available