T52S (p.Thr52Ser) variant of FOXA1 (P55317)
T52S (p.Thr52Ser) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- ExAC rs766847827
- TOPMed rs766847827
- gnomAD rs766847827
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.50
- PolyPhen-2 0.10
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)