W44* (p.Trp44Ter) variant of GLA (Alpha-galactosidase A)
W44* (p.Trp44Ter) in GLA (Alpha-galactosidase A) 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
- rs398123202
- ClinGen CA413937130
- ClinVar RCV000730691
- Ensembl rs398123202
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.86
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry… (PMID 2171331)