T54I (p.Thr54Ile) variant of FOXA1 (P55317)
T54I (p.Thr54Ile) 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.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- ExAC rs763349376
- gnomAD rs763349376
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)