P39L (p.Pro39Leu) variant of TBX5 (T-box transcription factor TBX5)
P39L (p.Pro39Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- TOPMed rs1028816896
- gnomAD rs1028816896
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- CADD 26.10
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available