T368M (p.Thr368Met) variant of ATP1A2 (P50993)
T368M (p.Thr368Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T368M (p.Thr368Met) variant details
- p.Thr368Met
- rs746383817
- ClinGen CA1194371
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63402
- Likely pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.94
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hemiplegic migraine)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)