P112L (p.Pro112Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
P112L (p.Pro112Leu) 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.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- rs1433544606
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65797
- TOPMed rs1433544606
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.48
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.37
- UniProt: Variant assessed as somatic; moderate impact.