V56L (p.Val56Leu) variant of TBX5 (T-box transcription factor TBX5)
V56L (p.Val56Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- TOPMed rs1327141955
- gnomAD rs1327141955
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.83
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available