L302P (p.Leu302Pro) variant of ATP1A1 (P05023)
L302P (p.Leu302Pro) 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.
L302P (p.Leu302Pro) variant details
- p.Leu302Pro
- rs1557785499
- ClinGen CA341843960
- ClinVar RCV000754797
- Ensembl rs1557785499
- Pathogenic
- Hypomagnesemia, seizures, and intellectual disability 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.92
- 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)