T48K (p.Thr48Lys) variant of GNAI1 (P63096)
T48K (p.Thr48Lys) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; Neurodevelopmental disorder with hypotonia, impaire. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T48K (p.Thr48Lys) variant details
- p.Thr48Lys
- rs1788434338
- ClinGen CA368011477
- ClinVar RCV001095673
- ClinVar RCV002249684
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Neurodevelopmental disorder with hypotonia, impaire
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Neurodevelopmental disorder with hy)
- 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: GNAI1-Related Neurodevelopmental Disorder. (PMID 39083633)