M133I (p.Met133Ile) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
M133I (p.Met133Ile) in FOXA2 (Hepatocyte nuclear factor 3-beta) 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 0.35 / 1. The record also includes population frequency data.
M133I (p.Met133Ile) variant details
- p.Met133Ile
- rs1000920736
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65797
- TOPMed rs1000920736
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.35
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.87
- SIFT 0.01
- MutPred 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available