E17D (p.Glu17Asp) variant of ATP1A2 (P50993)
E17D (p.Glu17Asp) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- Ensembl rs1558002451
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.27
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available