W25* (p.Trp25Ter) variant of HOGA1 (Q86XE5)
W25* (p.Trp25Ter) 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 0.51 / 1. The record also includes population frequency data and structural context.
W25* (p.Trp25Ter) variant details
- p.Trp25Ter
- rs1267512916
- ClinGen CA377967210
- ClinVar RCV001052697
- gnomAD rs1267512916
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available