T263M (p.Thr263Met) variant of ATP1A2 (P50993)
T263M (p.Thr263Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Migraine, familial hemiplegic, 2; Developmental and epileptic encephalopathy 98. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T263M (p.Thr263Met) variant details
- p.Thr263Met
- rs777400961
- ClinGen CA343237213
- ClinVar RCV000710694
- ClinVar RCV001868323
- Pathogenic/Likely pathogenic
- Migraine, familial hemiplegic, 2; Developmental and epileptic encephalopathy 98
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Migraine, familial hemiplegic, 2; Developmental and epileptic en)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)