A42A (p.Ala42Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A42A (p.Ala42Ala) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- rs1268184778
- gnomAD 12-113058318-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 11.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available