T712M (p.Thr712Met) variant of ATP1A2 (P50993)
T712M (p.Thr712Met) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T712M (p.Thr712Met) variant details
- p.Thr712Met
- rs1651907319
- ClinGen CA343248907
- cosmic curated COSV63404
- ClinVar RCV003990531
- Likely pathogenic
- Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)