N64S (p.Asn64Ser) variant of NLGN4X (Neuroligin-4, X-linked)
N64S (p.Asn64Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- rs141720696
- ClinGen CA10341245
- ClinVar RCV002410662
- ESP rs141720696
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.99
- CADD 7.32
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)