G7D (p.Gly7Asp) variant of ABCC8 (Q09428)
G7D (p.Gly7Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs1848809864
- ClinGen CA379790378
- ClinVar RCV002889171
- ClinVar RCV004700847
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available