E29* (p.Glu29Ter) variant of HOGA1 (Q86XE5)
E29* (p.Glu29Ter) in HOGA1 (Q86XE5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs764274149
- ClinGen CA377967226
- ClinVar RCV003447361
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.422
- MetaLR 0.57
- MetaSVM -0.55
- CADD 13.50
- PolyPhen-2 0.00
- MutPred 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)