V26E (p.Val26Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V26E (p.Val26Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V26E (p.Val26Glu) variant details
- p.Val26Glu
- Ensembl rs2136420668
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.30
- MetaSVM -0.39
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available