L24F (p.Leu24Phe) variant of NLGN3 (Neuroligin-3)
L24F (p.Leu24Phe) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- cosmic curated COSV10889
- 1000Genomes rs754055025
- ExAC rs754055025
- TOPMed rs754055025
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.016)
- Structural context available