A56T (p.Ala56Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A56T (p.Ala56Thr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs200220437
- NCI-TCGA Cosmic COSV5750
- ExAC rs200220437
- gnomAD rs200220437
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- MetaLR 0.09
- MetaSVM -0.97
- CADD 21.50
- PolyPhen-2 0.34
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available