L52R (p.Leu52Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L52R (p.Leu52Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L52R (p.Leu52Arg) variant details
- p.Leu52Arg
- TOPMed rs1434322197
- gnomAD rs1434322197
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.11
- MetaSVM -0.98
- CADD 24.20
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available