G71V (p.Gly71Val) variant of HOGA1 (Q86XE5)
G71V (p.Gly71Val) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G71V (p.Gly71Val) variant details
- p.Gly71Val
- rs2041090208
- ClinGen CA377976672
- ClinVar RCV003445245
- Likely pathogenic
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 34.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)