T55M (p.Thr55Met) variant of FOXA1 (P55317)
T55M (p.Thr55Met) in FOXA1 (P55317) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- rs1019690230
- NCI-TCGA Cosmic COSV9916
- TOPMed rs1019690230
- gnomAD rs1019690230
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.02
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)