M44I (p.Met44Ile) variant of FOXA1 (P55317)
M44I (p.Met44Ile) in FOXA1 (P55317) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
M44I (p.Met44Ile) variant details
- p.Met44Ile
- NCI-TCGA TCGA novel
- Ensembl rs2139184162
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- MetaLR 0.21
- MetaSVM -0.90
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.14
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)