T378I (p.Thr378Ile) variant of ATP1A2 (P50993)
T378I (p.Thr378Ile) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hemiplegic migraine-developmental and epileptic encephalopathy spectrum; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T378I (p.Thr378Ile) variant details
- p.Thr378Ile
- rs28934002
- ClinGen CA16603441
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63402
- Conflicting interpretations
- Hemiplegic migraine-developmental and epileptic encephalopathy spectrum; Familia
- 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: Conflicting classifications of pathogenicity (Hemiplegic migraine-developmental and epileptic encephalopathy s)
- EBI: Pathogenic (in AHC1)
- UniProt: Pathogenic (in AHC1)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)