M739R (p.Met739Arg) variant of GRIN2B (Q13224)
M739R (p.Met739Arg) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Craniosynostosis syndrome; Scoliosis; Atypical behavior. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
M739R (p.Met739Arg) variant details
- p.Met739Arg
- rs1555103652
- ClinGen CA383998268
- ClinVar RCV000626714
- Ensembl rs1555103652
- Likely pathogenic
- Craniosynostosis syndrome; Scoliosis; Atypical behavior
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.85
- MetaLR 0.08
- MetaSVM -1.06
- PolyPhen-2 0.91
- EVE 0.49
- MutPred 0.61
- ClinVar: Likely pathogenic (Craniosynostosis syndrome; Scoliosis; Atypical behavior)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic basis of potential therapeutic strategies for craniosynostosis. (PMID 21082653)