G40R (p.Gly40Arg) variant of GNAI1 (P63096)
G40R (p.Gly40Arg) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- rs2116052322
- ClinGen CA368010952
- ClinVar RCV003325401
- UniProt VAR 087205
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in NEDHISB)
- UniProt: Pathogenic (in NEDHISB)
- Structural context available
- Cited in: Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and… (PMID 33473207)
- Cited in: Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the… (PMID 34685729)