Q67E (p.Gln67Glu) variant of ATP1A2 (P50993)
Q67E (p.Gln67Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q67E (p.Gln67Glu) variant details
- p.Gln67Glu
- gnomAD rs1239361196
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.21
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available