Y101* (p.Tyr101Ter) variant of GNAQ (P50148)
Y101* (p.Tyr101Ter) in GNAQ (P50148) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y101* (p.Tyr101Ter) variant details
- p.Tyr101Ter
- 1000Genomes rs200106152
- ExAC rs200106152
- gnomAD rs200106152
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 38.00
- Most common in the East Asian population (allele frequency 0.0026)
- Structural context available