T364M (p.Thr364Met) variant of ATP1A2 (P50993)
T364M (p.Thr364Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T364M (p.Thr364Met) variant details
- p.Thr364Met
- rs1553244881
- rs796052276
- ClinGen CA313271
- cosmic curated COSV63402
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.93
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Migraine, familial hemipl)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)