N24S (p.Asn24Ser) variant of NLGN4X (Neuroligin-4, X-linked)
N24S (p.Asn24Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs775784070
- ClinGen CA10341263
- ClinVar RCV000999313
- ExAC rs775784070
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.093
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.02
- CADD 1.87
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00017)
- Structural context available