C45C (p.Cys45Cys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
C45C (p.Cys45Cys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C45C (p.Cys45Cys) variant details
- p.Cys45Cys
- rs767971099
- gnomAD 12-113058327-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 11.60
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Literature evidence available