F17L (p.Phe17Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
F17L (p.Phe17Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- gnomAD rs1190990812
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.02
- MetaSVM -1.00
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available