E51D (p.Glu51Asp) variant of HOGA1 (Q86XE5)
E51D (p.Glu51Asp) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- rs1347221993
- ClinGen CA377967362
- ClinVar RCV001102572
- TOPMed rs1347221993
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.51
- MetaSVM -0.35
- CADD 14.55
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)