G14S (p.Gly14Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G14S (p.Gly14Ser) 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 and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- ExAC rs768309364
- gnomAD rs768309364
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- MetaLR 0.04
- MetaSVM -1.03
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available