F27L (p.Phe27Leu) variant of ABCC8 (Q09428)
F27L (p.Phe27Leu) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HHF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- TOPMed rs1202763483
- gnomAD rs1202763483
- Uncertain significance
- in HHF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.65
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.34
- EBI: Variant of uncertain significance (in HHF1)
- UniProt: Uncertain significance (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available