V89L (p.Val89Leu) variant of TBX5 (T-box transcription factor TBX5)
V89L (p.Val89Leu) in TBX5 (T-box transcription factor TBX5) 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 0.85 / 1. The record also includes population frequency data and structural context.
V89L (p.Val89Leu) variant details
- p.Val89Leu
- NCI-TCGA TCGA novel
- gnomAD rs778885169
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 0.64
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available