M44V (p.Met44Val) variant of FOXA1 (P55317)
M44V (p.Met44Val) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
M44V (p.Met44Val) variant details
- p.Met44Val
- ExAC rs753616150
- TOPMed rs753616150
- gnomAD rs753616150
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.32
- MetaLR 0.23
- MetaSVM -0.87
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)