F120L (p.Phe120Leu) variant of ABCC4 (O15439)
F120L (p.Phe120Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- 1000Genomes rs534027214
- ExAC rs534027214
- TOPMed rs534027214
- gnomAD rs534027214
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the 1KG:MSL population (allele frequency 0.0063)