D173V (p.Asp173Val) variant of GNAI1 (P63096)
D173V (p.Asp173Val) 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 with hypotonia, impaired speech, and behavioral abno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
D173V (p.Asp173Val) variant details
- p.Asp173Val
- rs2115683966
- ClinGen CA368012356
- ClinVar RCV001824503
- ClinVar RCV004594596
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/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)