V12M (p.Val12Met) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V12M (p.Val12Met) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- TOPMed rs2044642933
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- MetaLR 0.03
- MetaSVM -1.06
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available