R83* (p.Arg83Ter) variant of UNC13D (Protein unc-13 homolog D)
R83* (p.Arg83Ter) in UNC13D (Protein unc-13 homolog D) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R83* (p.Arg83Ter) variant details
- p.Arg83Ter
- rs1274685768
- ClinGen CA401116746
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52882
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)