P63S (p.Pro63Ser) variant of NLGN4X (Neuroligin-4, X-linked)
P63S (p.Pro63Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- ESP rs150566193
- ExAC rs150566193
- TOPMed rs150566193
- gnomAD rs150566193
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.64
- CADD 14.70
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available