I39V (p.Ile39Val) variant of NLGN4X (Neuroligin-4, X-linked)
I39V (p.Ile39Val) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs201534650
- ClinGen CA223595
- ClinVar RCV000082030
- ClinVar RCV001818250
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.00
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.044)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)