Q20E (p.Gln20Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
Q20E (p.Gln20Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- gnomAD rs2044643260
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available