V46L (p.Val46Leu) variant of TBX20 (T-box transcription factor TBX20)
V46L (p.Val46Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- TOPMed rs1790278184
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.43
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available