W61* (p.Trp61Ter) variant of TGM1 (P22735)
W61* (p.Trp61Ter) in TGM1 (P22735) 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 0.57 / 1. The record also includes population frequency data and structural context.
W61* (p.Trp61Ter) variant details
- p.Trp61Ter
- rs1232497911
- gnomAD rs1232497911
- ClinGen CA389280799
- ClinVar RCV002908939
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available