A392V (p.Ala392Val) variant of TBX3 (T-box transcription factor TBX3)
A392V (p.Ala392Val) in TBX3 (T-box transcription factor TBX3) 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 0.43 / 1. The record also includes population frequency data.
A392V (p.Ala392Val) variant details
- p.Ala392Val
- rs1214834962
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57470
- gnomAD rs1214834962
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.33
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available