W12* (p.Trp12Ter) variant of TGM1 (P22735)
W12* (p.Trp12Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs2040821117
- gnomAD rs2040821117
- ClinGen CA389282857
- ClinVar RCV003064190
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available