G303R (p.Gly303Arg) variant of ATP1A1 (P05023)
G303R (p.Gly303Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypomagnesemia, seizures, and intellectual disability 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G303R (p.Gly303Arg) variant details
- p.Gly303Arg
- rs1557785503
- ClinGen CA341843963
- ClinVar RCV000754798
- UniProt VAR 081938
- Pathogenic
- Hypomagnesemia, seizures, and intellectual disability 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (Hypomagnesemia, seizures, and intellectual disability 2)
- EBI: Pathogenic (in HOMGSMR2)
- UniProt: Pathogenic (in HOMGSMR2)
- Structural context available
- Cited in: Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. (PMID 30388404)