P45R (p.Pro45Arg) variant of HOGA1 (Q86XE5)
P45R (p.Pro45Arg) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary hyperoxaluria type 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- rs764396564
- ClinGen CA377967322
- ClinVar RCV001102571
- ClinVar RCV003718319
- Conflicting interpretations
- Primary hyperoxaluria type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.50
- ClinVar: Conflicting classifications of pathogenicity (Primary hyperoxaluria type 3; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)