G111E (p.Gly111Glu) variant of ABCC8 (Q09428)
G111E (p.Gly111Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- rs2133711374
- ClinGen CA379784382
- ClinVar RCV002042485
- Ensembl rs2133711374
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.92
- MetaLR 0.85
- MetaSVM 0.97
- PolyPhen-2 0.82
- SIFT 0.03
- EVE 0.22
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Structural context available