F67C (p.Phe67Cys) variant of HOGA1 (Q86XE5)
F67C (p.Phe67Cys) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F67C (p.Phe67Cys) variant details
- p.Phe67Cys
- rs369191992
- ClinGen CA212658831
- ClinVar RCV003445238
- ESP rs369191992
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.77
- MetaSVM 0.59
- CADD 24.80
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)