C127* (p.Cys127Ter) variant of PLAT (P00750)
C127* (p.Cys127Ter) in PLAT (P00750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C127* (p.Cys127Ter) variant details
- p.Cys127Ter
- ESP rs373564770
- ExAC rs373564770
- TOPMed rs373564770
- gnomAD rs373564770
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available