Q19* (p.Gln19Ter) variant of ABCC8 (Q09428)
Q19* (p.Gln19Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs1407486337
- ClinGen CA379790127
- ClinVar RCV003322281
- gnomAD rs1407486337
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)