V44A (p.Val44Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V44A (p.Val44Ala) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- 1000Genomes rs199944169
- ExAC rs199944169
- TOPMed rs199944169
- gnomAD rs199944169
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.27
- MetaSVM -0.50
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available