Q3* (p.Gln3Ter) variant of ADA (Adenosine deaminase)
Q3* (p.Gln3Ter) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- rs1057520217
- ClinGen CA16607987
- ClinVar RCV000433743
- ClinVar RCV000687426
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)