G745D (p.Gly745Asp) variant of GRIA1 (Glutamate receptor 1)
G745D (p.Gly745Asp) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autism spectrum disorder; Intellectual developmental disorder, autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G745D (p.Gly745Asp) variant details
- p.Gly745Asp
- rs1561846159
- ClinGen CA362003294
- ClinVar RCV000709813
- ClinVar RCV001291381
- Pathogenic/Likely pathogenic
- Autism spectrum disorder; Intellectual developmental disorder, autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Autism spectrum disorder; Intellectual developmental disorder, a)
- EBI: Pathogenic (in MRD67)
- UniProt: Pathogenic (in MRD67)
- Structural context available
- Cited in: Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging… (PMID 35675825)
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)