F69C (p.Phe69Cys) variant of HOGA1 (Q86XE5)
F69C (p.Phe69Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F69C (p.Phe69Cys) variant details
- p.Phe69Cys
- rs2540060695
- ClinGen CA377967478
- ClinVar RCV003447341
- Likely pathogenic
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.84
- MetaSVM 0.82
- CADD 28.30
- 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)