S43C (p.Ser43Cys) variant of FOXA1 (P55317)
S43C (p.Ser43Cys) 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.
S43C (p.Ser43Cys) variant details
- p.Ser43Cys
- ExAC rs757052588
- gnomAD rs757052588
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -1.00
- CADD 26.20
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)