N131S (p.Asn131Ser) variant of NLGN4X (Neuroligin-4, X-linked)
N131S (p.Asn131Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
N131S (p.Asn131Ser) variant details
- p.Asn131Ser
- rs145307351
- ClinGen CA10341230
- ClinVar RCV001528731
- ESP rs145307351
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.79
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0011)
- Structural context available