V135L (p.Val135Leu) variant of TBX20 (T-box transcription factor TBX20)
V135L (p.Val135Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V135L (p.Val135Leu) variant details
- p.Val135Leu
- TOPMed rs1192856838
- gnomAD rs1192856838
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.71
- CADD 25.80
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available