A12A (p.Ala12Ala) variant of ATP1A2 (P50993)
A12A (p.Ala12Ala) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 1-160120929-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.085
- CADD 0.62
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available