R70P (p.Arg70Pro) variant of HOGA1 (Q86XE5)
R70P (p.Arg70Pro) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R70P (p.Arg70Pro) variant details
- p.Arg70Pro
- rs267606763
- ClinGen CA113816
- ClinVar RCV000000050
- ClinVar RCV001387338
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.83
- MetaSVM 0.69
- CADD 24.80
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in DHDPSL are responsible for primary hyperoxaluria type III. (PMID 20797690)
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)