W44* (p.Trp44Ter) variant of TGM1 (P22735)
W44* (p.Trp44Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W44* (p.Trp44Ter) variant details
- p.Trp44Ter
- rs886039654
- ClinGen CA10588573
- ClinVar RCV000255767
- ClinVar RCV000666492
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)