G1554D (p.Gly1554Asp) variant of ABCC8 (Q09428)
G1554D (p.Gly1554Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
G1554D (p.Gly1554Asp) variant details
- p.Gly1554Asp
- rs760494159
- ClinGen CA379781222
- ClinVar RCV003557567
- Pathogenic/Likely pathogenic
- Hereditary hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hyperinsulinism; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available