E11G (p.Glu11Gly) variant of ATP1A1 (P05023)
E11G (p.Glu11Gly) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 1-116384033-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.48
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available