M1I (p.Met1Ile) variant of HOGA1 (Q86XE5)
M1I (p.Met1Ile) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2135711169
- ClinGen CA377966862
- ClinVar RCV002000036
- ClinGen CA377966857
- Pathogenic
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.84
- MetaSVM 0.87
- CADD 23.90
- SIFT 0.00
- ClinVar: Pathogenic (Primary hyperoxaluria type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)