M859R (p.Met859Arg) variant of ATP1A1 (P05023)
M859R (p.Met859Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypomagnesemia, seizures, and intellectual disability 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
M859R (p.Met859Arg) variant details
- p.Met859Arg
- rs781629728
- ClinGen CA341774769
- ClinVar RCV000754799
- UniProt VAR 081939
- Likely pathogenic
- Hypomagnesemia, seizures, and intellectual disability 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.75
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 0.35
- SIFT 0.00
- MutPred 0.64
- ClinVar: Likely 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)