G19E (p.Gly19Glu) variant of ATP1A2 (P50993)
G19E (p.Gly19Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- gnomAD 1-160120949-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available