G7S (p.Gly7Ser) variant of ABCC8 (Q09428)
G7S (p.Gly7Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- ExAC rs781059815
- TOPMed rs781059815
- gnomAD rs781059815
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.87
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available