A125V (p.Ala125Val) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
A125V (p.Ala125Val) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- rs775592057
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- 1000Genomes rs775592057
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.85
- SIFT 0.03
- MutPred 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available