S9L (p.Ser9Leu) variant of NLGN3 (Neuroligin-3)
S9L (p.Ser9Leu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs777601149
- ClinGen CA330989496
- ClinVar RCV001193947
- 1000Genomes rs777601149
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.06
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0083)