L47F (p.Leu47Phe) variant of ABCC8 (Q09428)
L47F (p.Leu47Phe) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- ExAC rs751811897
- gnomAD rs751811897
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.57
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available