D56D (p.Asp56Asp) variant of ATP1A2 (P50993)
D56D (p.Asp56Asp) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D56D (p.Asp56Asp) variant details
- p.Asp56Asp
- rs377335018
- gnomAD 1-160121242-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 7.87
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available