W30R (p.Trp30Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
W30R (p.Trp30Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
W30R (p.Trp30Arg) variant details
- p.Trp30Arg
- gnomAD rs1291601450
- NCI-TCGA Cosmic COSV5750
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.37
- MetaSVM -0.16
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available