Y52H (p.Tyr52His) variant of NLGN4X (Neuroligin-4, X-linked)
Y52H (p.Tyr52His) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y52H (p.Tyr52His) variant details
- p.Tyr52His
- ESP rs374887193
- ExAC rs374887193
- TOPMed rs374887193
- gnomAD rs374887193
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.79
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available