R36H (p.Arg36His) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R36H (p.Arg36His) 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 0.55 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs1264108701
- NCI-TCGA Cosmic COSV5750
- gnomAD rs1264108701
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.16
- MetaSVM -0.97
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available