A56P (p.Ala56Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A56P (p.Ala56Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- ExAC rs200220437
- gnomAD rs200220437
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.05
- MetaSVM -1.08
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available