V44M (p.Val44Met) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V44M (p.Val44Met) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- ExAC rs774637405
- gnomAD rs774637405
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- MetaLR 0.34
- MetaSVM -0.20
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available