L2F (p.Leu2Phe) variant of FOXA1 (P55317)
L2F (p.Leu2Phe) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- 1000Genomes rs2139188245
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.64
- MetaLR 0.92
- MetaSVM 0.49
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)