G1477R (p.Gly1477Arg) variant of ABCC8 (Q09428)
G1477R (p.Gly1477Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hyperinsulinism due to SUR1 deficiency; Type 2 diabetes melli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
G1477R (p.Gly1477Arg) variant details
- p.Gly1477Arg
- rs1953795381
- ClinGen CA379783665
- ClinVar RCV003701618
- Pathogenic
- Autosomal dominant hyperinsulinism due to SUR1 deficiency; Type 2 diabetes melli
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.34
- MetaLR 0.72
- MetaSVM 0.44
- PolyPhen-2 0.43
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic (Familial hyperinsulinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available