V42* (p.Val42Ter) variant of HOGA1 (Q86XE5)
V42* (p.Val42Ter) in HOGA1 (Q86XE5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V42* (p.Val42Ter) variant details
- p.Val42Ter
- rs1419840309
- gnomAD 10-97584825-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 17.70
- Population evidence available
- Structural context available
- Literature evidence available