P11S (p.Pro11Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P11S (p.Pro11Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs545955103
- 1000Genomes rs545955103
- ExAC rs545955103
- gnomAD rs545955103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- MetaLR 0.02
- MetaSVM -1.01
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available