S12* (p.Ser12Ter) variant of ABCC8 (Q09428)
S12* (p.Ser12Ter) 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 published literature and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- rs1283621955
- ClinGen CA379790231
- ClinVar RCV001212753
- ClinVar RCV001779134
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.18
- MetaLR 0.64
- MetaSVM 0.16
- PolyPhen-2 0.61
- SIFT 0.07
- MutPred 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)