M44R (p.Met44Arg) variant of FOXA1 (P55317)
M44R (p.Met44Arg) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
M44R (p.Met44Arg) variant details
- p.Met44Arg
- ExAC rs777563544
- TOPMed rs777563544
- gnomAD rs777563544
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.55
- MetaLR 0.23
- MetaSVM -0.86
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)