V91M (p.Val91Met) variant of TBX5 (T-box transcription factor TBX5)
V91M (p.Val91Met) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V91M (p.Val91Met) variant details
- p.Val91Met
- gnomAD rs1473835296
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.74
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available