E1516G (p.Glu1516Gly) variant of ABCC8 (Q09428)
E1516G (p.Glu1516Gly) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
E1516G (p.Glu1516Gly) variant details
- p.Glu1516Gly
- rs2133393241
- ClinGen CA379782282
- ClinVar RCV001817867
- ClinVar RCV005922715
- Likely pathogenic
- not provided; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.91
- MetaLR 0.61
- MetaSVM 0.26
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (not provided; Familial hyperinsulinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)