M829T (p.Met829Thr) variant of ATP1A2 (P50993)
M829T (p.Met829Thr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hemiplegic migraine; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
M829T (p.Met829Thr) variant details
- p.Met829Thr
- rs1570995017
- ClinGen CA343251371
- ClinVar RCV004017197
- ClinVar RCV006613242
- Conflicting interpretations
- Familial hemiplegic migraine; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Conflicting classifications of pathogenicity (Familial hemiplegic migraine; Migraine, familial hemiplegic, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)