L9P (p.Leu9Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L9P (p.Leu9Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- Ensembl rs2044642782
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- MetaLR 0.04
- MetaSVM -1.10
- CADD 25.70
- PolyPhen-2 0.48
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available