T52P (p.Thr52Pro) variant of FOXA1 (P55317)
T52P (p.Thr52Pro) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T52P (p.Thr52Pro) variant details
- p.Thr52Pro
- ExAC rs766847827
- TOPMed rs766847827
- gnomAD rs766847827
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.15
- MetaLR 0.03
- MetaSVM -0.99
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the East Asian population (allele frequency 0.00039)