S59F (p.Ser59Phe) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
S59F (p.Ser59Phe) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. 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.
S59F (p.Ser59Phe) variant details
- p.Ser59Phe
- gnomAD rs1201021667
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.21
- MetaSVM -0.84
- CADD 25.00
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available