W51* (p.Trp51Ter) variant of ABCC8 (Q09428)
W51* (p.Trp51Ter) in ABCC8 (Q09428) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W51* (p.Trp51Ter) variant details
- p.Trp51Ter
- rs1591928988
- ClinGen CA379788703
- ClinVar RCV000814291
- ClinVar RCV002254319
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)