K28M (p.Lys28Met) variant of ATP1A2 (P50993)
K28M (p.Lys28Met) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K28M (p.Lys28Met) variant details
- p.Lys28Met
- gnomAD rs1377838920
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.45
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available