E48Q (p.Glu48Gln) variant of ATP1A2 (P50993)
E48Q (p.Glu48Gln) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- gnomAD 1-160121216-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available