V76I (p.Val76Ile) variant of NLGN4X (Neuroligin-4, X-linked)
V76I (p.Val76Ile) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V76I (p.Val76Ile) variant details
- p.Val76Ile
- TOPMed rs2040159244
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 8.60
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available