V44L (p.Val44Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V44L (p.Val44Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- gnomAD 12-113058322-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.31
- MetaSVM -0.32
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available