E128K (p.Glu128Lys) variant of ABCC8 (Q09428)
E128K (p.Glu128Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E128K (p.Glu128Lys) variant details
- p.Glu128Lys
- rs781617345
- ClinGen CA5903897
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56848
- Pathogenic/Likely pathogenic
- not provided; Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- AlphaMissense 0.46
- MetaLR 0.61
- MetaSVM 0.25
- CADD 27.80
- PolyPhen-2 0.37
- ClinVar: Pathogenic/Likely pathogenic (not provided; Type 2 diabetes mellitus; Hyperinsulinemic hypogly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)