Y15* (p.Tyr15Ter) variant of ABCC8 (Q09428)
Y15* (p.Tyr15Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y15* (p.Tyr15Ter) variant details
- p.Tyr15Ter
- rs758231286
- ClinGen CA379790178
- ClinVar RCV001910791
- ClinVar RCV002490136
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)