P11L (p.Pro11Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P11L (p.Pro11Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- ExAC rs771706036
- gnomAD rs771706036
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- MetaLR 0.03
- MetaSVM -1.09
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available