V42C (p.Val42Cys) variant of HOGA1 (Q86XE5)
V42C (p.Val42Cys) in HOGA1 (Q86XE5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V42C (p.Val42Cys) variant details
- p.Val42Cys
- rs1425736036
- gnomAD 10-97584819-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available