V26L (p.Val26Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V26L (p.Val26Leu) 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, published literature, and structural context.
V26L (p.Val26Leu) variant details
- p.Val26Leu
- gnomAD 12-113058268-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- MetaLR 0.31
- MetaSVM -0.31
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available