G7C (p.Gly7Cys) variant of ABCC8 (Q09428)
G7C (p.Gly7Cys) 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 0.87 / 1. The record also includes population frequency data and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- rs781059815
- ClinGen CA379790383
- ClinVar RCV003665580
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Population evidence available
- Structural context available