D31D (p.Asp31Asp) variant of ATP1A1 (P05023)
D31D (p.Asp31Asp) in ATP1A1 (P05023) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D31D (p.Asp31Asp) variant details
- p.Asp31Asp
- rs939137125
- gnomAD 1-116384094-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.70
- Most common in the Amish population (allele frequency 0.043)
- Structural context available
- Literature evidence available