A60T (p.Ala60Thr) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
A60T (p.Ala60Thr) 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 0.47 / 1. The record also includes population frequency data.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs769823311
- NCI-TCGA Cosmic COSV6579
- ExAC rs769823311
- gnomAD rs769823311
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.07
- MetaLR 0.56
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available