A130T (p.Ala130Thr) variant of NLGN4X (Neuroligin-4, X-linked)
A130T (p.Ala130Thr) 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 0.30 / 1. The record also includes population frequency data and structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- rs1029475096
- NCI-TCGA Cosmic COSV5201
- cosmic curated COSV52010
- gnomAD rs1029475096
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.84
- CADD 12.00
- PolyPhen-2 0.09
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available