T376M (p.Thr376Met) variant of ATP1A2 (P50993)
T376M (p.Thr376Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hemiplegic migraine; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
T376M (p.Thr376Met) variant details
- p.Thr376Met
- rs121918620
- ClinGen CA256656
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10076
- Pathogenic/Likely pathogenic
- Familial hemiplegic migraine; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemiplegic migraine; Inborn genetic diseases; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. (PMID 17952365)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)