S132* (p.Ser132Ter) variant of VPS13C (Q709C8)
S132* (p.Ser132Ter) in VPS13C (Q709C8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S132* (p.Ser132Ter) variant details
- p.Ser132Ter
- gnomAD rs1159170881
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available