P35A (p.Pro35Ala) variant of TBX5 (T-box transcription factor TBX5)
P35A (p.Pro35Ala) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- TOPMed rs1309984671
- gnomAD rs1309984671
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.10
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available