W68* (p.Trp68Ter) variant of AICDA (Q9GZX7)
W68* (p.Trp68Ter) in AICDA (Q9GZX7) 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, published literature, and structural context.
W68* (p.Trp68Ter) variant details
- p.Trp68Ter
- rs104894325
- ClinGen CA117268
- ClinVar RCV000005430
- ClinVar RCV003389747
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)