G37D (p.Gly37Asp) variant of HOGA1 (Q86XE5)
G37D (p.Gly37Asp) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- rs772722925
- ClinGen CA377967274
- ClinVar RCV003447373
- ExAC rs772722925
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- CADD 27.30
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)