P63T (p.Pro63Thr) variant of NLGN4X (Neuroligin-4, X-linked)
P63T (p.Pro63Thr) 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 Asperger syndrome, X-linked, susceptibility to, 2; Autism, susceptibility to, X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P63T (p.Pro63Thr) variant details
- p.Pro63Thr
- rs150566193
- ClinGen CA10341248
- ClinVar RCV001727499
- ClinVar RCV002496053
- Uncertain significance
- Asperger syndrome, X-linked, susceptibility to, 2; Autism, susceptibility to, X
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.14
- MetaLR 0.35
- MetaSVM -0.35
- CADD 17.50
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (Asperger syndrome, X-linked, susceptibility to, 2; Autism, susce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available