Y39* (p.Tyr39Ter) variant of HOGA1 (Q86XE5)
Y39* (p.Tyr39Ter) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y39* (p.Tyr39Ter) variant details
- p.Tyr39Ter
- rs746419489
- ClinGen CA203942
- ClinVar RCV000186475
- ClinVar RCV001069053
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)