D43D (p.Asp43Asp) variant of ATP1A1 (P05023)
D43D (p.Asp43Asp) in ATP1A1 (P05023) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D43D (p.Asp43Asp) variant details
- p.Asp43Asp
- rs1354383018
- gnomAD 1-116384788-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 10.20
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available
- Literature evidence available