I286T (p.Ile286Thr) variant of ATP1A2 (P50993)
I286T (p.Ile286Thr) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I286T (p.Ile286Thr) variant details
- p.Ile286Thr
- rs121918617
- ClinGen CA256647
- ClinVar RCV000013790
- ClinVar RCV002513024
- Likely pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. (PMID 17473835)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)