E17G (p.Glu17Gly) variant of ATP1A2 (P50993)
E17G (p.Glu17Gly) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 1-160120943-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available