Q42* (p.Gln42Ter) variant of VPS13C (Q709C8)
Q42* (p.Gln42Ter) in VPS13C (Q709C8) 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 and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- gnomAD rs1462313345
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available