M1R (p.Met1Arg) variant of HOGA1 (Q86XE5)
M1R (p.Met1Arg) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs529940373
- ClinGen CA5633804
- ClinVar RCV001870848
- ClinVar RCV006639026
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.73
- ESM-1b 0.94
- AlphaMissense 0.15
- MetaLR 0.88
- MetaSVM 0.95
- CADD 23.80
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)