G50D (p.Gly50Asp) variant of ATP1A2 (P50993)
G50D (p.Gly50Asp) in ATP1A2 (P50993) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- NCI-TCGA TCGA novel
- TOPMed rs1570983300
- gnomAD rs1570983300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.31
- CADD 18.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available