E382K (p.Glu382Lys) variant of ABCC8 (Q09428)
E382K (p.Glu382Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
E382K (p.Glu382Lys) variant details
- p.Glu382Lys
- rs80356651
- ClinGen CA340872
- cosmic curated COSV10513
- ClinVar RCV000009678
- Pathogenic
- Diabetes mellitus, permanent neonatal 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 0.67
- MetaLR 0.63
- MetaSVM 0.20
- PolyPhen-2 0.39
- SIFT 0.19
- EVE 0.64
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 3)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)