P125L (p.Pro125Leu) variant of NLGN4X (Neuroligin-4, X-linked)
P125L (p.Pro125Leu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P125L (p.Pro125Leu) variant details
- p.Pro125Leu
- rs1347582887
- ClinGen CA412014876
- ClinVar RCV003231733
- ClinVar RCV004961244
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.58
- MetaLR 0.48
- MetaSVM 0.07
- CADD 23.40
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)