G58R (p.Gly58Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G58R (p.Gly58Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- gnomAD 12-113058364-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- MetaLR 0.25
- MetaSVM -0.55
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available