G58S (p.Gly58Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G58S (p.Gly58Ser) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- rs201380111
- ClinGen CA6801743
- NCI-TCGA Cosmic COSV5749
- ClinVar RCV004196932
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- MetaLR 0.17
- MetaSVM -0.95
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available