T378N (p.Thr378Asn) variant of ATP1A2 (P50993)
T378N (p.Thr378Asn) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ATP1A2-related disorder; Familial hemiplegic migraine; Alternating hemiplegia of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T378N (p.Thr378Asn) variant details
- p.Thr378Asn
- rs28934002
- ClinGen CA122783
- ClinVar RCV000013784
- ClinVar RCV001229312
- Pathogenic/Likely pathogenic
- ATP1A2-related disorder; Familial hemiplegic migraine; Alternating hemiplegia of
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (ATP1A2-related disorder; Familial hemiplegic migraine; Alternati)
- EBI: Pathogenic (in AHC1)
- UniProt: Pathogenic (in AHC1)
- Structural context available
- Cited in: Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. (PMID 14667076)
- Cited in: Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. (PMID 15174025)