V51L (p.Val51Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V51L (p.Val51Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V51L (p.Val51Leu) variant details
- p.Val51Leu
- gnomAD 12-113058343-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.12
- MetaSVM -0.97
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available