D272G (p.Asp272Gly) variant of GNAI1 (P63096)
D272G (p.Asp272Gly) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.69 / 1. The record also includes population frequency data and published literature.
D272G (p.Asp272Gly) variant details
- p.Asp272Gly
- rs2115712712
- ClinGen CA368013085
- ClinVar RCV002248392
- Ensembl rs2115712712
- Pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, impaired speech, and)
- EBI: Pathogenic (in NEDHISB)
- UniProt: Pathogenic (in NEDHISB)
- Population evidence available
- Cited in: Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development. (PMID 34819662)
- Cited in: Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and… (PMID 33473207)