V5M (p.Val5Met) variant of FOXA1 (P55317)
V5M (p.Val5Met) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
V5M (p.Val5Met) variant details
- p.Val5Met
- TOPMed rs1007881450
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.64
- MetaLR 0.91
- MetaSVM 0.40
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)