P16L (p.Pro16Leu) variant of NLGN4X (Neuroligin-4, X-linked)
P16L (p.Pro16Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2519423639
- ClinGen CA412015586
- ClinVar RCV003886976
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -1.03
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available