G50V (p.Gly50Val) variant of ATP1A2 (P50993)
G50V (p.Gly50Val) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- rs1570983300
- ClinGen CA343228694
- ClinVar RCV000818228
- TOPMed rs1570983300
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.31
- CADD 17.00
- PolyPhen-2 0.06
- SIFT 0.50
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)