I46F (p.Ile46Phe) variant of ABCC8 (Q09428)
I46F (p.Ile46Phe) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I46F (p.Ile46Phe) variant details
- p.Ile46Phe
- ExAC rs759639212
- TOPMed rs759639212
- gnomAD rs759639212
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available