W117* (p.Trp117Ter) variant of ADA (Adenosine deaminase)
W117* (p.Trp117Ter) in ADA (Adenosine deaminase) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W117* (p.Trp117Ter) variant details
- p.Trp117Ter
- rs749484894
- ClinGen CA9871701
- ClinVar RCV000670433
- ExAC rs749484894
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.881
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)