S43P (p.Ser43Pro) variant of FOXA1 (P55317)
S43P (p.Ser43Pro) in FOXA1 (P55317) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- ExAC rs778522379
- TOPMed rs778522379
- gnomAD rs778522379
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- MetaLR 0.06
- MetaSVM -1.01
- CADD 24.70
- PolyPhen-2 0.49
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)