G60D (p.Gly60Asp) variant of ATP1A2 (P50993)
G60D (p.Gly60Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs1210388068
- ClinGen CA343230242
- ClinVar RCV003814016
- gnomAD rs1210388068
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)