L741R (p.Leu741Arg) variant of NLGN3 (Neuroligin-3)
L741R (p.Leu741Arg) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autism, susceptibility to, X-linked 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1.
L741R (p.Leu741Arg) variant details
- p.Leu741Arg
- rs1460006418
- ClinGen CA413566834
- ClinVar RCV002470678
- Likely pathogenic
- Autism, susceptibility to, X-linked 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- AlphaMissense 0.06
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.20
- EVE 0.08
- ClinVar: Likely pathogenic (Autism, susceptibility to, X-linked 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic