P19L (p.Pro19Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P19L (p.Pro19Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- TOPMed rs1213905795
- gnomAD rs1213905795
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)