M80I (p.Met80Ile) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
M80I (p.Met80Ile) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- rs1338942089
- ClinGen CA408502888
- ClinVar RCV003827131
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.43
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.96
- SIFT 0.11
- MutPred 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance