K59E (p.Lys59Glu) variant of ATP1A2 (P50993)
K59E (p.Lys59Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- gnomAD 1-160121249-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available