Y137* (p.Tyr137Ter) variant of VPS13C (Q709C8)
Y137* (p.Tyr137Ter) in VPS13C (Q709C8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y137* (p.Tyr137Ter) variant details
- p.Tyr137Ter
- ExAC rs770314489
- gnomAD rs770314489
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available