G1433S (p.Gly1433Ser) variant of ABCC8 (Q09428)
G1433S (p.Gly1433Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1433S (p.Gly1433Ser) variant details
- p.Gly1433Ser
- rs781090024
- ClinGen CA5902519
- ClinVar RCV001376864
- ClinVar RCV003473896
- Pathogenic/Likely pathogenic
- not provided; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.97
- AlphaMissense 0.52
- MetaLR 0.89
- MetaSVM 0.99
- CADD 29.60
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Type 2 diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)