Q72H (p.Gln72His) variant of NLGN4X (Neuroligin-4, X-linked)
Q72H (p.Gln72His) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q72H (p.Gln72His) variant details
- p.Gln72His
- NCI-TCGA Cosmic COSV5203
- cosmic curated COSV52035
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.52
- MetaLR 0.47
- MetaSVM 0.23
- CADD 10.50
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available