T134A (p.Thr134Ala) variant of NLGN4X (Neuroligin-4, X-linked)
T134A (p.Thr134Ala) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T134A (p.Thr134Ala) variant details
- p.Thr134Ala
- rs774379413
- ExAC rs774379413
- TOPMed rs774379413
- gnomAD rs774379413
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.06
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available