G7S (p.Gly7Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G7S (p.Gly7Ser) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- gnomAD 12-113058211-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- MetaLR 0.07
- MetaSVM -1.13
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available