E17Q (p.Glu17Gln) variant of ATP1A2 (P50993)
E17Q (p.Glu17Gln) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- gnomAD rs1233714976
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available