P19S (p.Pro19Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P19S (p.Pro19Ser) 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.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- ExAC rs766783302
- TOPMed rs766783302
- gnomAD rs766783302
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.02
- MetaSVM -1.06
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 3.3e-05)