E27del (p.Glu27del) variant of ATP1A2 (P50993)
E27del (p.Glu27del) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E27del (p.Glu27del) variant details
- gnomAD 1-160120969-AAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 19.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available