G40C (p.Gly40Cys) variant of GNAI1 (P63096)
G40C (p.Gly40Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- rs2116052322
- ClinGen CA368010953
- ClinVar RCV002249061
- Ensembl rs2116052322
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, impaired speech, and)
- EBI: Pathogenic (in NEDHISB)
- UniProt: Pathogenic (in NEDHISB)
- Population evidence available
- 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)