Y53C (p.Tyr53Cys) variant of ATP1A2 (P50993)
Y53C (p.Tyr53Cys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs1651387702
- ClinGen CA343228765
- ClinVar RCV003061136
- ClinVar RCV005233075
- Uncertain significance
- Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.85
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemiplegic migraine; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)