A606T (p.Ala606Thr) variant of ATP1A2 (P50993)
A606T (p.Ala606Thr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paroxysmal central nervous system disorders; Familial hemiplegic migraine; ATP1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A606T (p.Ala606Thr) variant details
- p.Ala606Thr
- rs1414742926
- ClinGen CA343244541
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10076
- Pathogenic
- Paroxysmal central nervous system disorders; Familial hemiplegic migraine; ATP1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Paroxysmal central nervous system disorders; Familial hemiplegic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)