L18F (p.Leu18Phe) variant of ABCC4 (O15439)
L18F (p.Leu18Phe) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- 1000Genomes rs11568681
- ESP rs11568681
- ExAC rs11568681
- TOPMed rs11568681
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)