L31F (p.Leu31Phe) variant of NLGN3 (Neuroligin-3)
L31F (p.Leu31Phe) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- rs1258826819
- ClinGen CA413546945
- ClinVar RCV003329889
- ClinVar RCV005377355
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- 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)