G706R (p.Gly706Arg) variant of ATP1A3 (P13637)
G706R (p.Gly706Arg) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Dystonia 12; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
G706R (p.Gly706Arg) variant details
- p.Gly706Arg
- rs782175860
- ClinGen CA406042217
- NCI-TCGA Cosmic COSV1001
- NCI-TCGA Cosmic COSV5748
- Pathogenic
- Inborn genetic diseases; Dystonia 12; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Inborn genetic diseases; Dystonia 12; Seizure)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)