P90A (p.Pro90Ala) variant of NLGN4X (Neuroligin-4, X-linked)
P90A (p.Pro90Ala) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
P90A (p.Pro90Ala) variant details
- p.Pro90Ala
- rs1473002369
- ClinGen CA412015110
- ClinVar RCV002453179
- ClinVar RCV004763416
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.37
- MetaLR 0.57
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)