P28L (p.Pro28Leu) variant of TBX5 (T-box transcription factor TBX5)
P28L (p.Pro28Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ExAC rs755790672
- gnomAD rs755790672
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- CADD 23.20
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available