R74L (p.Arg74Leu) variant of ABCC8 (Q09428)
R74L (p.Arg74Leu) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF1. 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.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- ExAC rs72559734
- TOPMed rs72559734
- gnomAD rs72559734
- Pathogenic
- in HHF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.94
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available