G45D (p.Gly45Asp) variant of GNAI1 (P63096)
G45D (p.Gly45Asp) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs2115631937
- ClinGen CA368011456
- ClinVar RCV003222501
- UniProt VAR 087206
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, impaired speech, and)
- 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: GNAI1-Related Neurodevelopmental Disorder. (PMID 39083633)