W39* (p.Trp39Ter) variant of TRMU (O75648)
W39* (p.Trp39Ter) in TRMU (O75648) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
W39* (p.Trp39Ter) variant details
- p.Trp39Ter
- TOPMed rs1347374960
- gnomAD rs1347374960
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available