V74G (p.Val74Gly) variant of HOGA1 (Q86XE5)
V74G (p.Val74Gly) 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; not provided; HOGA1-related disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V74G (p.Val74Gly) variant details
- p.Val74Gly
- rs796052084
- ClinGen CA203940
- ClinVar RCV000186474
- ClinVar RCV001857598
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria type 3; not provided; HOGA1-related disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.50
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria type 3; not provided; HOGA1-related disord)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)