P81S (p.Pro81Ser) variant of NLGN4X (Neuroligin-4, X-linked)
P81S (p.Pro81Ser) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- TOPMed rs1245032090
- gnomAD rs1245032090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.58
- MetaLR 0.56
- MetaSVM 0.32
- CADD 22.50
- PolyPhen-2 0.51
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available