M558V (p.Met558Val) variant of NLGN3 (Neuroligin-3)
M558V (p.Met558Val) 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 0.52 / 1.
M558V (p.Met558Val) variant details
- p.Met558Val
- rs2147908798
- ClinGen CA413563848
- ClinVar RCV001794857
- Ensembl rs2147908798
- Likely pathogenic
- Autism, susceptibility to, X-linked 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.94
- MetaLR 0.43
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.57
- ClinVar: Likely pathogenic (Autism, susceptibility to, X-linked 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic