N64I (p.Asn64Ile) variant of NLGN4X (Neuroligin-4, X-linked)
N64I (p.Asn64Ile) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N64I (p.Asn64Ile) variant details
- p.Asn64Ile
- ESP rs141720696
- ExAC rs141720696
- TOPMed rs141720696
- gnomAD rs141720696
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.18
- MetaLR 0.28
- MetaSVM -0.62
- CADD 22.10
- PolyPhen-2 0.58
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available