T43A (p.Thr43Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
T43A (p.Thr43Ala) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs747818661
- gnomAD rs747818661
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- MetaLR 0.03
- MetaSVM -1.02
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available