S56R (p.Ser56Arg) variant of FOXA1 (P55317)
S56R (p.Ser56Arg) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- TOPMed rs1566824925
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -1.05
- CADD 26.00
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)