R67* (p.Arg67Ter) variant of BUB1B (O60566)
R67* (p.Arg67Ter) in BUB1B (O60566) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- rs200884355
- ClinGen CA7475406
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99807
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)