E8Q (p.Glu8Gln) variant of ATP1A2 (P50993)
E8Q (p.Glu8Gln) 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.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD 1-160120915-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.21
- CADD 20.00
- PolyPhen-2 0.22
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available