T55K (p.Thr55Lys) variant of FOXA1 (P55317)
T55K (p.Thr55Lys) 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 0.33 / 1. The record also includes population frequency data.
T55K (p.Thr55Lys) variant details
- p.Thr55Lys
- TOPMed rs1019690230
- gnomAD rs1019690230
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)