F44L (p.Phe44Leu) variant of ABCC8 (Q09428)
F44L (p.Phe44Leu) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- Ensembl rs890699383
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.63
- CADD 24.30
- PolyPhen-2 0.23
- SIFT 0.33
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available