R70* (p.Arg70Ter) variant of HOGA1 (Q86XE5)
R70* (p.Arg70Ter) in HOGA1 (Q86XE5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R70* (p.Arg70Ter) variant details
- p.Arg70Ter
- rs758304537
- ClinGen CA203945
- cosmic curated COSV53970
- ClinVar RCV000186476
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)