V60E (p.Val60Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V60E (p.Val60Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V60E (p.Val60Glu) variant details
- p.Val60Glu
- ExAC rs780013460
- TOPMed rs780013460
- gnomAD rs780013460
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.37
- MetaSVM -0.19
- CADD 28.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available