L52L (p.Leu52Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L52L (p.Leu52Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- gnomAD 12-113058346-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available