L38F (p.Leu38Phe) variant of NLGN4X (Neuroligin-4, X-linked)
L38F (p.Leu38Phe) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- Ensembl rs868605599
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- MetaLR 0.24
- MetaSVM -0.90
- CADD 8.89
- PolyPhen-2 0.28
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available