P45L (p.Pro45Leu) variant of HOGA1 (Q86XE5)
P45L (p.Pro45Leu) 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. 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.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs764396564
- ClinGen CA203938
- ClinVar RCV000186473
- ClinVar RCV002513970
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.93
- MetaSVM 1.07
- CADD 29.60
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria type 3; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)