L126M (p.Leu126Met) variant of ATP1A3 (P13637)
L126M (p.Leu126Met) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L126M (p.Leu126Met) variant details
- p.Leu126Met
- rs1167271636
- ClinGen CA406055617
- ClinVar RCV001267620
- TOPMed rs1167271636
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.77
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)