T54A (p.Thr54Ala) variant of FOXA1 (P55317)
T54A (p.Thr54Ala) 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.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- TOPMed rs2095597171
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)