Q18E (p.Gln18Glu) variant of ATP1A1 (P05023)
Q18E (p.Gln18Glu) in ATP1A1 (P05023) is a missense change. 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.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 1-116384053-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.33
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available
- Literature evidence available