M731T (p.Met731Thr) variant of ATP1A2 (P50993)
M731T (p.Met731Thr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
M731T (p.Met731Thr) variant details
- p.Met731Thr
- rs28933400
- ClinGen CA256631
- ClinVar RCV000013782
- UniProt VAR 019936
- Likely pathogenic
- Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.64
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 2)
- EBI: Pathogenic (in FHM2)
- UniProt: Pathogenic (in FHM2)
- Structural context available
- Cited in: Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial… (PMID 12953268)
- Cited in: Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. (PMID 16037212)