E100K (p.Glu100Lys) variant of ABCC8 (Q09428)
E100K (p.Glu100Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs200687571
- ClinGen CA5903914
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56848
- Conflicting interpretations
- not provided; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (not provided; Leucine-induced hypoglycemia; Diabetes mellitus, p)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Heterozygous ABCC8 mutations are a cause of MODY. (PMID 21989597)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)