P94L (p.Pro94Leu) variant of NLGN4X (Neuroligin-4, X-linked)
P94L (p.Pro94Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs1057524668
- ClinGen CA16609202
- NCI-TCGA Cosmic COSV5203
- cosmic curated COSV52033
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.36
- MetaLR 0.32
- MetaSVM -0.41
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available