Q204R (p.Gln204Arg) variant of GNAI1 (P63096)
Q204R (p.Gln204Arg) 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 0.65 / 1. The record also includes population frequency data and published literature.
Q204R (p.Gln204Arg) variant details
- p.Gln204Arg
- rs1788863320
- ClinGen CA368012588
- ClinVar RCV003142268
- Ensembl rs1788863320
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, impaired speech, and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Cited in: GNAI1-Related Neurodevelopmental Disorder. (PMID 39083633)