D272N (p.Asp272Asn) variant of GNAI1 (P63096)
D272N (p.Asp272Asn) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neurodevelopmental disorder with hypotonia, impaired speech, and b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
D272N (p.Asp272Asn) variant details
- p.Asp272Asn
- rs2115712706
- ClinGen CA368013081
- ClinVar RCV001816465
- ClinVar RCV004762190
- Pathogenic/Likely pathogenic
- not provided; Neurodevelopmental disorder with hypotonia, impaired speech, and b
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neurodevelopmental disorder with hypotonia, impair)
- EBI: Pathogenic (in NEDHISB)
- UniProt: Pathogenic (in NEDHISB)
- Cited in: GNAI1-Related Neurodevelopmental Disorder. (PMID 39083633)