G7C (p.Gly7Cys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G7C (p.Gly7Cys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 12-113058211-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- MetaLR 0.09
- MetaSVM -1.06
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available