V19I (p.Val19Ile) variant of NLGN4X (Neuroligin-4, X-linked)
V19I (p.Val19Ile) 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 0.10 / 1. The record also includes population frequency data and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- rs1180614483
- ClinGen CA412015571
- NCI-TCGA Cosmic COSV9932
- ClinVar RCV002288214
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0979
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.06
- CADD 2.25
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available